MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000699262
Querying Taster for transcript #2: ENST00000673254
Querying Taster for transcript #3: ENST00000673046
Querying Taster for transcript #4: ENST00000672574
Querying Taster for transcript #5: ENST00000672751
Querying Taster for transcript #6: ENST00000699312
Querying Taster for transcript #7: ENST00000672434
Querying Taster for transcript #8: ENST00000671954
Querying Taster for transcript #9: ENST00000672179
Querying Taster for transcript #10: ENST00000699260
Querying Taster for transcript #11: ENST00000699259
Querying Taster for transcript #12: ENST00000699310
Querying Taster for transcript #13: ENST00000673246
Querying Taster for transcript #14: ENST00000672247
Querying Taster for transcript #15: ENST00000671929
Querying Taster for transcript #16: ENST00000342505
MT speed 1.46 s - this script 4.015382 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Amino acid changes	Variant type	Protein length	Features at a glance
ENST00000673254	JAK1	Deleterious	9\|1	complex_aae	No	G1104Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000673046	JAK1	Deleterious	9\|1	complex_aae	No	G1146Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000672434	JAK1	Deleterious	9\|1	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000671954	JAK1	Deleterious	9\|1	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000672179	JAK1	Deleterious	9\|1	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000672247	JAK1	Deleterious	9\|1	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000671929	JAK1	Deleterious	9\|1	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000342505(MANE Select)	JAK1	Deleterious	9\|1	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000699262	JAK1	Deleterious	10\|0	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000672574	JAK1	Deleterious	10\|0	complex_aae	No	G1113Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000672751	JAK1	Deleterious	10\|0	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000699312	JAK1	Deleterious	10\|0	complex_aae	No	G1148Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000699260	JAK1	Deleterious	10\|0	complex_aae	No	G1147Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000699259	JAK1	Deleterious	10\|0	complex_aae	No	G1147Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000699310	JAK1	Deleterious	10\|0	complex_aae	No	G1146Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000673246	JAK1	Deleterious	10\|0	complex_aae	No	G1105Dfs*6	Deletion	Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)

MutationT@ster 2025

Variant:

1:64834583TC>T_2_ENST00000673254

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 9|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.17, LOF (oe): 0.11, misssense (oe): 0.56, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000673254.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.3311delG
g.233171delG

AA changes

G1104Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1104	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISVSTH DLKVKYLATL ETLTKHYGAE
IFETSMLLIS SENEMNWFHS NDGGNVLYYE VMVTGNLGIQ WRHKPNVVSV EKEKNKLKRK
KLENKHKKDE EKNKIREEWN NFSYFPEITH IVIKESVVSI NKQDNKKMEL KLSSHEEALS
FVSLVDGYFR LTADAHHYLC TDVAPPLIVH NIQNGCHGPI CTEYAINKLR QEGSEEGMYV
LRWSCTDFDN ILMTVTCFEK SEQVQGAQKQ FKNFQIEVQK GRYSLHGSDR SFPSLGDLMS
HLKKQILRTD NISFMLKRCC QPKPREISNL LVATKKAQEW QPVYPMSQLS FDRILKKDLV
QGEHLGRGTR THIYSGTLMD YKDDEGTSEE KKIKVILKVL DPSHRDISLA FFEAASMMRQ
VSHKHIVYLY GVCVRDVENI MVEEFVEGGP LDLFMHRKSD VLTTPWKFKV AKQLASALSY
LEDKDLVHGN VCTKNLLLAR EGIDSECGPF IKLSDPGIPI TVLSRQECIE RIPWIAPECV
EDSKNLSVAA DKWSFGTTLW EICYNGEIPL KDKTLIEKER FYESRCRPVT PSCKELADLM
TRCMNYDPNQ RPFFRAIMRD INKLEEQNPD IVSEKKPATE VDPTHFEKRF LKRIRDLGEG
HFGKVELCRY DPEGDNTGEQ VAVKSLKPES GGNHIADLKK EIEILRNLYH ENIVKYKGIC
TEDGGNGIKL IMEFLPSGSL KEYLPKNKNK INLKQQLKYA VQICKGMDYL GSRQYVHRDL
AARNVLVESE HQVKIGDFGL TKAIETDKEY YTVKDDRDSP VFWYAPECLM QSKFYIASDV
WSFGVTLHEL LTYCDSDSSP MALFLKMIGP THGQMTVTRL VNTLKEGKRL PCPPNCPDEV
YQLMRKCWEF QPSNRTSFQN LIEGFEALLK *

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISVSTH DLKVKYLATL ETLTKHYGAE
IFETSMLLIS SENEMNWFHS NDGGNVLYYE VMVTGNLGIQ WRHKPNVVSV EKEKNKLKRK
KLENKHKKDE EKNKIREEWN NFSYFPEITH IVIKESVVSI NKQDNKKMEL KLSSHEEALS
FVSLVDGYFR LTADAHHYLC TDVAPPLIVH NIQNGCHGPI CTEYAINKLR QEGSEEGMYV
LRWSCTDFDN ILMTVTCFEK SEQVQGAQKQ FKNFQIEVQK GRYSLHGSDR SFPSLGDLMS
HLKKQILRTD NISFMLKRCC QPKPREISNL LVATKKAQEW QPVYPMSQLS FDRILKKDLV
QGEHLGRGTR THIYSGTLMD YKDDEGTSEE KKIKVILKVL DPSHRDISLA FFEAASMMRQ
VSHKHIVYLY GVCVRDVENI MVEEFVEGGP LDLFMHRKSD VLTTPWKFKV AKQLASALSY
LEDKDLVHGN VCTKNLLLAR EGIDSECGPF IKLSDPGIPI TVLSRQECIE RIPWIAPECV
EDSKNLSVAA DKWSFGTTLW EICYNGEIPL KDKTLIEKER FYESRCRPVT PSCKELADLM
TRCMNYDPNQ RPFFRAIMRD INKLEEQNPD IVSEKKPATE VDPTHFEKRF LKRIRDLGEG
HFGKVELCRY DPEGDNTGEQ VAVKSLKPES GGNHIADLKK EIEILRNLYH ENIVKYKGIC
TEDGGNGIKL IMEFLPSGSL KEYLPKNKNK INLKQQLKYA VQICKGMDYL GSRQYVHRDL
AARNVLVESE HQVKIGDFGL TKAIETDKEY YTVKDDRDSP VFWYAPECLM QSKFYIASDV
WSFGVTLHEL LTYCDSDSSP MALFLKMIGP THGQMTVTRL VNTLKEGKRL PCPPNCPDEV
YQLMRKCWEF QPSNRTSFQN LIEDLKHF*

Position of stopcodon in wt / mu CDS

3333 / 3327

Position (AA) of stopcodon in wt / mu AA sequence

1111 / 1109

Position of stopcodon in wt / mu cDNA

3630 / 3624

Position of start ATG in wt / mu cDNA

298 / 298

Last intron/exon boundary

3534

Theoretical NMD boundary in CDS

3186

Length of CDS

3333

Coding sequence (CDS) position

3310 / 3312

cDNA position

3607 / 3609

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.09 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_3_ENST00000673046

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 9|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.18, LOF (oe): 0.11, misssense (oe): 0.57, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000673046.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.3437delG
g.233171delG

AA changes

G1146Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1146	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNIVSEKKPA TEVDPTHFEK RFLKRIRDLG EGHFGKVELC RYDPEGDNTG
EQVAVKSLKP ESGGNHIADL KKEIEILRNL YHENIVKYKG ICTEDGGNGI KLIMEFLPSG
SLKEYLPKNK NKINLKQQLK YAVQICKGMD YLGSRQYVHR DLAARNVLVE SEHQVKIGDF
GLTKAIETDK EYYTVKDDRD SPVFWYAPEC LMQSKFYIAS DVWSFGVTLH ELLTYCDSDS
SPMALFLKMI GPTHGQMTVT RLVNTLKEGK RLPCPPNCPD EVYQLMRKCW EFQPSNRTSF
QNLIEGFEAL LK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNIVSEKKPA TEVDPTHFEK RFLKRIRDLG EGHFGKVELC RYDPEGDNTG
EQVAVKSLKP ESGGNHIADL KKEIEILRNL YHENIVKYKG ICTEDGGNGI KLIMEFLPSG
SLKEYLPKNK NKINLKQQLK YAVQICKGMD YLGSRQYVHR DLAARNVLVE SEHQVKIGDF
GLTKAIETDK EYYTVKDDRD SPVFWYAPEC LMQSKFYIAS DVWSFGVTLH ELLTYCDSDS
SPMALFLKMI GPTHGQMTVT RLVNTLKEGK RLPCPPNCPD EVYQLMRKCW EFQPSNRTSF
QNLIEDLKHF *

Position of stopcodon in wt / mu CDS

3459 / 3453

Position (AA) of stopcodon in wt / mu AA sequence

1153 / 1151

Position of stopcodon in wt / mu cDNA

3574 / 3568

Position of start ATG in wt / mu cDNA

116 / 116

Last intron/exon boundary

3478

Theoretical NMD boundary in CDS

3312

Length of CDS

3459

Coding sequence (CDS) position

3436 / 3438

cDNA position

3551 / 3553

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.11 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_7_ENST00000672434

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 9|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000672434.2

Genbank transcript ID

NM_001321853 (by similarity)

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3930 / 3924

Position of start ATG in wt / mu cDNA

466 / 466

Last intron/exon boundary

3834

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3907 / 3909

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.10 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_8_ENST00000671954

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 9|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000671954.2

Genbank transcript ID

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3773 / 3767

Position of start ATG in wt / mu cDNA

309 / 309

Last intron/exon boundary

3677

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3750 / 3752

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.06 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_9_ENST00000672179

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 9|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000672179.2

Genbank transcript ID

NM_001321856 (by similarity)

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3581 / 3575

Position of start ATG in wt / mu cDNA

117 / 117

Last intron/exon boundary

3485

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3558 / 3560

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.09 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_14_ENST00000672247

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 9|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000672247.2

Genbank transcript ID

NM_001321855 (by similarity)

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3841 / 3835

Position of start ATG in wt / mu cDNA

377 / 377

Last intron/exon boundary

3745

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3818 / 3820

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_15_ENST00000671929

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 9|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000671929.2

Genbank transcript ID

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3862 / 3856

Position of start ATG in wt / mu cDNA

398 / 398

Last intron/exon boundary

3766

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3839 / 3841

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.09 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_16_ENST00000342505

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 9|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000342505.5

Genbank transcript ID

NM_002227 (exact from MANE)

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	all conserved	1148					S	F	Q	N	L	I	E	G	F	E	A	L	L	K
Mmulatta	all conserved	1148					S	F	Q	N	L	I	E	G	F	E	A	L	L	K
Fcatus	all conserved	1147					T	F	Q	N	L	I	K	G	F	E	A	L	L	E
Mmusculus	all conserved	1147				T	T	F	Q	N	L	I	E	G	F	E	A	L	L	K
Ggallus	partly conserved	1142			R	T	T	F	H	N	L	I	Q	G	F	E	T	I	M
Trubripes	partly conserved	1166	E	R	R	I	T	F	T	A	L	I	K	E	L	S	N	M	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all conserved	1134	S	H	R	T	T	F	Q	D	L	I	K	G	F	E	A	I	I

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3759 / 3753

Position of start ATG in wt / mu cDNA

295 / 295

Last intron/exon boundary

3663

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3736 / 3738

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.11 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_1_ENST00000699262

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

no data

Ensembl transcript ID

ENST00000699262.1

Genbank transcript ID

NM_001320923 (by similarity)

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3682 / 3676

Position of start ATG in wt / mu cDNA

218 / 218

Last intron/exon boundary

3586

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3659 / 3661

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.10 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_4_ENST00000672574

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.14, LOF (oe): 0.04, misssense (oe): 0.45, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000672574.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.3338delG
g.233171delG

AA changes

G1113Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1113	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSYPDI VSEKKPATEV DPTHFEKRFL
KRIRDLGEGH FGKVELCRYD PEGDNTGEQV AVKSLKPESG GNHIADLKKE IEILRNLYHE
NIVKYKGICT EDGGNGIKLI MEFLPSGSLK EYLPKNKNKI NLKQQLKYAV QICKGMDYLG
SRQYVHRDLA ARNVLVESEH QVKIGDFGLT KAIETDKEYY TVKDDRDSPV FWYAPECLMQ
SKFYIASDVW SFGVTLHELL TYCDSDSSPM ALFLKMIGPT HGQMTVTRLV NTLKEGKRLP
CPPNCPDEVY QLMRKCWEFQ PSNRTSFQNL IEGFEALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSYPDI VSEKKPATEV DPTHFEKRFL
KRIRDLGEGH FGKVELCRYD PEGDNTGEQV AVKSLKPESG GNHIADLKKE IEILRNLYHE
NIVKYKGICT EDGGNGIKLI MEFLPSGSLK EYLPKNKNKI NLKQQLKYAV QICKGMDYLG
SRQYVHRDLA ARNVLVESEH QVKIGDFGLT KAIETDKEYY TVKDDRDSPV FWYAPECLMQ
SKFYIASDVW SFGVTLHELL TYCDSDSSPM ALFLKMIGPT HGQMTVTRLV NTLKEGKRLP
CPPNCPDEVY QLMRKCWEFQ PSNRTSFQNL IEDLKHF*

Position of stopcodon in wt / mu CDS

3360 / 3354

Position (AA) of stopcodon in wt / mu AA sequence

1120 / 1118

Position of stopcodon in wt / mu cDNA

3674 / 3668

Position of start ATG in wt / mu cDNA

315 / 315

Last intron/exon boundary

3578

Theoretical NMD boundary in CDS

3213

Length of CDS

3360

Coding sequence (CDS) position

3337 / 3339

cDNA position

3651 / 3653

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.10 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_5_ENST00000672751

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.37, LOF (oe): 0.20, misssense (oe): 0.67, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000672751.2

Genbank transcript ID

NM_001321852 (by similarity)

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3693 / 3687

Position of start ATG in wt / mu cDNA

229 / 229

Last intron/exon boundary

3597

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3670 / 3672

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.11 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_6_ENST00000699312

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

no data

Ensembl transcript ID

ENST00000699312.1

Genbank transcript ID

NM_001321854 (by similarity)

UniProt / AlphaMissense peptide

JAK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.3443delG
g.233171delG

AA changes

G1148Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1148	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1154	CHAIN		lost
875	1153	DOMAIN	Protein kinase	lost
1142	1153	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEGFE ALLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
SFQNLIEDLK HF*

Position of stopcodon in wt / mu CDS

3465 / 3459

Position (AA) of stopcodon in wt / mu AA sequence

1155 / 1153

Position of stopcodon in wt / mu cDNA

3846 / 3840

Position of start ATG in wt / mu cDNA

382 / 382

Last intron/exon boundary

3750

Theoretical NMD boundary in CDS

3318

Length of CDS

3465

Coding sequence (CDS) position

3442 / 3444

cDNA position

3823 / 3825

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_10_ENST00000699260

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

no data

Ensembl transcript ID

ENST00000699260.1

Genbank transcript ID

NM_001321857 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.3440delG
g.233171delG

AA changes

G1147Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1147	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEVQGA QKQFKNFQIE VQKGRYSLHG SDRSFPSLGD LMSHLKKQIL RTDNISFMLK
RCCQPKPREI SNLLVATKKA QEWQPVYPMS QLSFDRILKK DLVQGEHLGR GTRTHIYSGT
LMDYKDDEGT SEEKKIKVIL KVLDPSHRDI SLAFFEAASM MRQVSHKHIV YLYGVCVRDV
ENIMVEEFVE GGPLDLFMHR KSDVLTTPWK FKVAKQLASA LSYLEDKDLV HGNVCTKNLL
LAREGIDSEC GPFIKLSDPG IPITVLSRQE CIERIPWIAP ECVEDSKNLS VAADKWSFGT
TLWEICYNGE IPLKDKTLIE KERFYESRCR PVTPSCKELA DLMTRCMNYD PNQRPFFRAI
MRDINKLEEQ NPDIVSEKKP ATEVDPTHFE KRFLKRIRDL GEGHFGKVEL CRYDPEGDNT
GEQVAVKSLK PESGGNHIAD LKKEIEILRN LYHENIVKYK GICTEDGGNG IKLIMEFLPS
GSLKEYLPKN KNKINLKQQL KYAVQICKGM DYLGSRQYVH RDLAARNVLV ESEHQVKIGD
FGLTKAIETD KEYYTVKDDR DSPVFWYAPE CLMQSKFYIA SDVWSFGVTL HELLTYCDSD
SSPMALFLKM IGPTHGQMTV TRLVNTLKEG KRLPCPPNCP DEVYQLMRKC WEFQPSNRTS
FQNLIEGFEA LLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEVQGA QKQFKNFQIE VQKGRYSLHG SDRSFPSLGD LMSHLKKQIL RTDNISFMLK
RCCQPKPREI SNLLVATKKA QEWQPVYPMS QLSFDRILKK DLVQGEHLGR GTRTHIYSGT
LMDYKDDEGT SEEKKIKVIL KVLDPSHRDI SLAFFEAASM MRQVSHKHIV YLYGVCVRDV
ENIMVEEFVE GGPLDLFMHR KSDVLTTPWK FKVAKQLASA LSYLEDKDLV HGNVCTKNLL
LAREGIDSEC GPFIKLSDPG IPITVLSRQE CIERIPWIAP ECVEDSKNLS VAADKWSFGT
TLWEICYNGE IPLKDKTLIE KERFYESRCR PVTPSCKELA DLMTRCMNYD PNQRPFFRAI
MRDINKLEEQ NPDIVSEKKP ATEVDPTHFE KRFLKRIRDL GEGHFGKVEL CRYDPEGDNT
GEQVAVKSLK PESGGNHIAD LKKEIEILRN LYHENIVKYK GICTEDGGNG IKLIMEFLPS
GSLKEYLPKN KNKINLKQQL KYAVQICKGM DYLGSRQYVH RDLAARNVLV ESEHQVKIGD
FGLTKAIETD KEYYTVKDDR DSPVFWYAPE CLMQSKFYIA SDVWSFGVTL HELLTYCDSD
SSPMALFLKM IGPTHGQMTV TRLVNTLKEG KRLPCPPNCP DEVYQLMRKC WEFQPSNRTS
FQNLIEDLKH F*

Position of stopcodon in wt / mu CDS

3462 / 3456

Position (AA) of stopcodon in wt / mu AA sequence

1154 / 1152

Position of stopcodon in wt / mu cDNA

3776 / 3770

Position of start ATG in wt / mu cDNA

315 / 315

Last intron/exon boundary

3680

Theoretical NMD boundary in CDS

3315

Length of CDS

3462

Coding sequence (CDS) position

3439 / 3441

cDNA position

3753 / 3755

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.06 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_11_ENST00000699259

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

no data

Ensembl transcript ID

ENST00000699259.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.3440delG
g.233171delG

AA changes

G1147Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1147	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEVQGA QKQFKNFQIE VQKGRYSLHG SDRSFPSLGD LMSHLKKQIL RTDNISFMLK
RCCQPKPREI SNLLVATKKA QEWQPVYPMS QLSFDRILKK DLVQGEHLGR GTRTHIYSGT
LMDYKDDEGT SEEKKIKVIL KVLDPSHRDI SLAFFEAASM MRQVSHKHIV YLYGVCVRDV
ENIMVEEFVE GGPLDLFMHR KSDVLTTPWK FKVAKQLASA LSYLEDKDLV HGNVCTKNLL
LAREGIDSEC GPFIKLSDPG IPITVLSRQE CIERIPWIAP ECVEDSKNLS VAADKWSFGT
TLWEICYNGE IPLKDKTLIE KERFYESRCR PVTPSCKELA DLMTRCMNYD PNQRPFFRAI
MRDINKLEEQ NPDIVSEKKP ATEVDPTHFE KRFLKRIRDL GEGHFGKVEL CRYDPEGDNT
GEQVAVKSLK PESGGNHIAD LKKEIEILRN LYHENIVKYK GICTEDGGNG IKLIMEFLPS
GSLKEYLPKN KNKINLKQQL KYAVQICKGM DYLGSRQYVH RDLAARNVLV ESEHQVKIGD
FGLTKAIETD KEYYTVKDDR DSPVFWYAPE CLMQSKFYIA SDVWSFGVTL HELLTYCDSD
SSPMALFLKM IGPTHGQMTV TRLVNTLKEG KRLPCPPNCP DEVYQLMRKC WEFQPSNRTS
FQNLIEGFEA LLK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
CFEKSEVQGA QKQFKNFQIE VQKGRYSLHG SDRSFPSLGD LMSHLKKQIL RTDNISFMLK
RCCQPKPREI SNLLVATKKA QEWQPVYPMS QLSFDRILKK DLVQGEHLGR GTRTHIYSGT
LMDYKDDEGT SEEKKIKVIL KVLDPSHRDI SLAFFEAASM MRQVSHKHIV YLYGVCVRDV
ENIMVEEFVE GGPLDLFMHR KSDVLTTPWK FKVAKQLASA LSYLEDKDLV HGNVCTKNLL
LAREGIDSEC GPFIKLSDPG IPITVLSRQE CIERIPWIAP ECVEDSKNLS VAADKWSFGT
TLWEICYNGE IPLKDKTLIE KERFYESRCR PVTPSCKELA DLMTRCMNYD PNQRPFFRAI
MRDINKLEEQ NPDIVSEKKP ATEVDPTHFE KRFLKRIRDL GEGHFGKVEL CRYDPEGDNT
GEQVAVKSLK PESGGNHIAD LKKEIEILRN LYHENIVKYK GICTEDGGNG IKLIMEFLPS
GSLKEYLPKN KNKINLKQQL KYAVQICKGM DYLGSRQYVH RDLAARNVLV ESEHQVKIGD
FGLTKAIETD KEYYTVKDDR DSPVFWYAPE CLMQSKFYIA SDVWSFGVTL HELLTYCDSD
SSPMALFLKM IGPTHGQMTV TRLVNTLKEG KRLPCPPNCP DEVYQLMRKC WEFQPSNRTS
FQNLIEDLKH F*

Position of stopcodon in wt / mu CDS

3462 / 3456

Position (AA) of stopcodon in wt / mu AA sequence

1154 / 1152

Position of stopcodon in wt / mu cDNA

3843 / 3837

Position of start ATG in wt / mu cDNA

382 / 382

Last intron/exon boundary

3747

Theoretical NMD boundary in CDS

3315

Length of CDS

3462

Coding sequence (CDS) position

3439 / 3441

cDNA position

3820 / 3822

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.11 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_12_ENST00000699310

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

no data

Ensembl transcript ID

ENST00000699310.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.3437delG
g.233171delG

AA changes

G1146Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1146	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QYDLVKCLAP IRDPKTEQDG
HDIENECLGM AVLAISHYAM MKKMQLPELP KDISYKRYIP ETLNKSIRQR NLLTRMRINN
VFKDFLKEFN NKTICDSSVS THDLKVKYLA TLETLTKHYG AEIFETSMLL ISSENEMNWF
HSNDGGNVLY YEVMVTGNLG IQWRHKPNVV SVEKEKNKLK RKKLENKHKK DEEKNKIREE
WNNFSYFPEI THIVIKESVV SINKQDNKKM ELKLSSHEEA LSFVSLVDGY FRLTADAHHY
LCTDVAPPLI VHNIQNGCHG PICTEYAINK LRQEGSEEGM YVLRWSCTDF DNILMTVTCF
EKSEQVQGAQ KQFKNFQIEV QKGRYSLHGS DRSFPSLGDL MSHLKKQILR TDNISFMLKR
CCQPKPREIS NLLVATKKAQ EWQPVYPMSQ LSFDRILKKD LVQGEHLGRG TRTHIYSGTL
MDYKDDEGTS EEKKIKVILK VLDPSHRDIS LAFFEAASMM RQVSHKHIVY LYGVCVRDVE
NIMVEEFVEG GPLDLFMHRK SDVLTTPWKF KVAKQLASAL SYLEDKDLVH GNVCTKNLLL
AREGIDSECG PFIKLSDPGI PITVLSRQEC IERIPWIAPE CVEDSKNLSV AADKWSFGTT
LWEICYNGEI PLKDKTLIEK ERFYESRCRP VTPSCKELAD LMTRCMNYDP NQRPFFRAIM
RDINKLEEQN PDIVSEKKPA TEVDPTHFEK RFLKRIRDLG EGHFGKVELC RYDPEGDNTG
EQVAVKSLKP ESGGNHIADL KKEIEILRNL YHENIVKYKG ICTEDGGNGI KLIMEFLPSG
SLKEYLPKNK NKINLKQQLK YAVQICKGMD YLGSRQYVHR DLAARNVLVE SEHQVKIGDF
GLTKAIETDK EYYTVKDDRD SPVFWYAPEC LMQSKFYIAS DVWSFGVTLH ELLTYCDSDS
SPMALFLKMI GPTHGQMTVT RLVNTLKEGK RLPCPPNCPD EVYQLMRKCW EFQPSNRTSF
QNLIEGFEAL LK*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QYDLVKCLAP IRDPKTEQDG
HDIENECLGM AVLAISHYAM MKKMQLPELP KDISYKRYIP ETLNKSIRQR NLLTRMRINN
VFKDFLKEFN NKTICDSSVS THDLKVKYLA TLETLTKHYG AEIFETSMLL ISSENEMNWF
HSNDGGNVLY YEVMVTGNLG IQWRHKPNVV SVEKEKNKLK RKKLENKHKK DEEKNKIREE
WNNFSYFPEI THIVIKESVV SINKQDNKKM ELKLSSHEEA LSFVSLVDGY FRLTADAHHY
LCTDVAPPLI VHNIQNGCHG PICTEYAINK LRQEGSEEGM YVLRWSCTDF DNILMTVTCF
EKSEQVQGAQ KQFKNFQIEV QKGRYSLHGS DRSFPSLGDL MSHLKKQILR TDNISFMLKR
CCQPKPREIS NLLVATKKAQ EWQPVYPMSQ LSFDRILKKD LVQGEHLGRG TRTHIYSGTL
MDYKDDEGTS EEKKIKVILK VLDPSHRDIS LAFFEAASMM RQVSHKHIVY LYGVCVRDVE
NIMVEEFVEG GPLDLFMHRK SDVLTTPWKF KVAKQLASAL SYLEDKDLVH GNVCTKNLLL
AREGIDSECG PFIKLSDPGI PITVLSRQEC IERIPWIAPE CVEDSKNLSV AADKWSFGTT
LWEICYNGEI PLKDKTLIEK ERFYESRCRP VTPSCKELAD LMTRCMNYDP NQRPFFRAIM
RDINKLEEQN PDIVSEKKPA TEVDPTHFEK RFLKRIRDLG EGHFGKVELC RYDPEGDNTG
EQVAVKSLKP ESGGNHIADL KKEIEILRNL YHENIVKYKG ICTEDGGNGI KLIMEFLPSG
SLKEYLPKNK NKINLKQQLK YAVQICKGMD YLGSRQYVHR DLAARNVLVE SEHQVKIGDF
GLTKAIETDK EYYTVKDDRD SPVFWYAPEC LMQSKFYIAS DVWSFGVTLH ELLTYCDSDS
SPMALFLKMI GPTHGQMTVT RLVNTLKEGK RLPCPPNCPD EVYQLMRKCW EFQPSNRTSF
QNLIEDLKHF *

Position of stopcodon in wt / mu CDS

3459 / 3453

Position (AA) of stopcodon in wt / mu AA sequence

1153 / 1151

Position of stopcodon in wt / mu cDNA

3755 / 3749

Position of start ATG in wt / mu cDNA

297 / 297

Last intron/exon boundary

3659

Theoretical NMD boundary in CDS

3312

Length of CDS

3459

Coding sequence (CDS) position

3436 / 3438

cDNA position

3732 / 3734

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.10 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:64834583TC>T_13_ENST00000673246

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834584delC (GRCh38)

Gene symbol

JAK1

Gene constraints

LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.54, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000673246.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.3314delG
g.233171delG

AA changes

G1105Dfs*6

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-2 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1489154835
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1105	S	N	R	T	S	F	Q	N	L	I	E	G	F	E	A	L	L	K	*
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.761	1
	2.225	1
(flanking)	3.512	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered gDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Original cDNA sequence snippet

CTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAAT

Altered cDNA sequence snippet

CTTTCAGAACCTTATTGAAGATTTGAAGCACTTTTAAAAT

Wildtype AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISSVST HDLKVKYLAT LETLTKHYGA
EIFETSMLLI SSENEMNWFH SNDGGNVLYY EVMVTGNLGI QWRHKPNVVS VEKEKNKLKR
KKLENKHKKD EEKNKIREEW NNFSYFPEIT HIVIKESVVS INKQDNKKME LKLSSHEEAL
SFVSLVDGYF RLTADAHHYL CTDVAPPLIV HNIQNGCHGP ICTEYAINKL RQEGSEEGMY
VLRWSCTDFD NILMTVTCFE KSEQVQGAQK QFKNFQIEVQ KGRYSLHGSD RSFPSLGDLM
SHLKKQILRT DNISFMLKRC CQPKPREISN LLVATKKAQE WQPVYPMSQL SFDRILKKDL
VQGEHLGRGT RTHIYSGTLM DYKDDEGTSE EKKIKVILKV LDPSHRDISL AFFEAASMMR
QVSHKHIVYL YGVCVRDVEN IMVEEFVEGG PLDLFMHRKS DVLTTPWKFK VAKQLASALS
YLEDKDLVHG NVCTKNLLLA REGIDSECGP FIKLSDPGIP ITVLSRQECI ERIPWIAPEC
VEDSKNLSVA ADKWSFGTTL WEICYNGEIP LKDKTLIEKE RFYESRCRPV TPSCKELADL
MTRCMNYDPN QRPFFRAIMR DINKLEEQNP DIVSEKKPAT EVDPTHFEKR FLKRIRDLGE
GHFGKVELCR YDPEGDNTGE QVAVKSLKPE SGGNHIADLK KEIEILRNLY HENIVKYKGI
CTEDGGNGIK LIMEFLPSGS LKEYLPKNKN KINLKQQLKY AVQICKGMDY LGSRQYVHRD
LAARNVLVES EHQVKIGDFG LTKAIETDKE YYTVKDDRDS PVFWYAPECL MQSKFYIASD
VWSFGVTLHE LLTYCDSDSS PMALFLKMIG PTHGQMTVTR LVNTLKEGKR LPCPPNCPDE
VYQLMRKCWE FQPSNRTSFQ NLIEGFEALL K*

Mutated AA sequence

MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISSVST HDLKVKYLAT LETLTKHYGA
EIFETSMLLI SSENEMNWFH SNDGGNVLYY EVMVTGNLGI QWRHKPNVVS VEKEKNKLKR
KKLENKHKKD EEKNKIREEW NNFSYFPEIT HIVIKESVVS INKQDNKKME LKLSSHEEAL
SFVSLVDGYF RLTADAHHYL CTDVAPPLIV HNIQNGCHGP ICTEYAINKL RQEGSEEGMY
VLRWSCTDFD NILMTVTCFE KSEQVQGAQK QFKNFQIEVQ KGRYSLHGSD RSFPSLGDLM
SHLKKQILRT DNISFMLKRC CQPKPREISN LLVATKKAQE WQPVYPMSQL SFDRILKKDL
VQGEHLGRGT RTHIYSGTLM DYKDDEGTSE EKKIKVILKV LDPSHRDISL AFFEAASMMR
QVSHKHIVYL YGVCVRDVEN IMVEEFVEGG PLDLFMHRKS DVLTTPWKFK VAKQLASALS
YLEDKDLVHG NVCTKNLLLA REGIDSECGP FIKLSDPGIP ITVLSRQECI ERIPWIAPEC
VEDSKNLSVA ADKWSFGTTL WEICYNGEIP LKDKTLIEKE RFYESRCRPV TPSCKELADL
MTRCMNYDPN QRPFFRAIMR DINKLEEQNP DIVSEKKPAT EVDPTHFEKR FLKRIRDLGE
GHFGKVELCR YDPEGDNTGE QVAVKSLKPE SGGNHIADLK KEIEILRNLY HENIVKYKGI
CTEDGGNGIK LIMEFLPSGS LKEYLPKNKN KINLKQQLKY AVQICKGMDY LGSRQYVHRD
LAARNVLVES EHQVKIGDFG LTKAIETDKE YYTVKDDRDS PVFWYAPECL MQSKFYIASD
VWSFGVTLHE LLTYCDSDSS PMALFLKMIG PTHGQMTVTR LVNTLKEGKR LPCPPNCPDE
VYQLMRKCWE FQPSNRTSFQ NLIEDLKHF*

Position of stopcodon in wt / mu CDS

3336 / 3330

Position (AA) of stopcodon in wt / mu AA sequence

1112 / 1110

Position of stopcodon in wt / mu cDNA

3632 / 3626

Position of start ATG in wt / mu cDNA

297 / 297

Last intron/exon boundary

3536

Theoretical NMD boundary in CDS

3189

Length of CDS

3336

Coding sequence (CDS) position

3313 / 3315

cDNA position

3609 / 3611

gDNA position

233170 / 233172

Chromosomal position

64834583 / 64834585

Speed

0.09 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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