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 1.86 s - this script 4.429337 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
ENST00000673046	JAK1	Benign	0\|10	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000672434	JAK1	Benign	0\|10	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000671954	JAK1	Benign	0\|10	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000672179	JAK1	Benign	0\|10	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000672247	JAK1	Benign	0\|10	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000671929	JAK1	Benign	0\|10	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000342505(MANE Select)	JAK1	Benign	0\|10	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000673254	JAK1	Benign	1\|9	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000673246	JAK1	Benign	1\|9	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000699262	JAK1	Benign	2\|8	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000672751	JAK1	Benign	2\|8	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000699312	JAK1	Benign	2\|8	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000699260	JAK1	Benign	2\|8	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000699259	JAK1	Benign	2\|8	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000699310	JAK1	Benign	2\|8	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein
ENST00000672574	JAK1	Benign	3\|7	complex_aae	No	original stopcodon lost	Single base exchange	Prolonged protein (+3 AA)	Amino acid sequence changed Heterozygous in gnomAD Prolonged protein

MutationT@ster 2025

Variant:

1:64834564A>G_3_ENST00000673046

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3457T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1153Q	-1154E	-1154A	-1154*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1153	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1153	N	L	I	E	G	F	E	A	L	L	K	q	e	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)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
QNLIEGFEAL LKQEA*

Position of stopcodon in wt / mu CDS

3459 / 3468

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

1153 / 1156

Position of stopcodon in wt / mu cDNA

3574 / 3583

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

3457

cDNA position

3572

gDNA position

233191

Chromosomal position

64834564

Speed

0.12 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:

1:64834564A>G_7_ENST00000672434

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	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

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3930 / 3939

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

3463

cDNA position

3928

gDNA position

233191

Chromosomal position

64834564

Speed

0.13 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:

1:64834564A>G_8_ENST00000671954

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	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

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3773 / 3782

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

3463

cDNA position

3771

gDNA position

233191

Chromosomal position

64834564

Speed

0.13 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:

1:64834564A>G_9_ENST00000672179

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	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

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3581 / 3590

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

3463

cDNA position

3579

gDNA position

233191

Chromosomal position

64834564

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:

1:64834564A>G_14_ENST00000672247

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	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

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3841 / 3850

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

3463

cDNA position

3839

gDNA position

233191

Chromosomal position

64834564

Speed

0.13 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:

1:64834564A>G_15_ENST00000671929

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	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

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3862 / 3871

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

3463

cDNA position

3860

gDNA position

233191

Chromosomal position

64834564

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

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MutationT@ster 2025

Variant:

1:64834564A>G_16_ENST00000342505

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	a
Ptroglodytes	no alignment	n/a
Mmulatta	no alignment	n/a
Fcatus	no alignment	n/a
Mmusculus	no alignment	n/a
Ggallus	no alignment	n/a
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3759 / 3768

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

3463

cDNA position

3757

gDNA position

233191

Chromosomal position

64834564

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:

1:64834564A>G_2_ENST00000673254

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3331T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1111Q	-1112E	-1112A	-1112*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1111	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1111	N	L	I	E	G	F	E	A	L	L	K	q	e	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)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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 LIEGFEALLK QEA*

Position of stopcodon in wt / mu CDS

3333 / 3342

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

1111 / 1114

Position of stopcodon in wt / mu cDNA

3630 / 3639

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

3331

cDNA position

3628

gDNA position

233191

Chromosomal position

64834564

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:

1:64834564A>G_13_ENST00000673246

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

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

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3334T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1112Q	-1113E	-1113A	-1113*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1112	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1112	N	L	I	E	G	F	E	A	L	L	K	q	e	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)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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 NLIEGFEALL KQEA*

Position of stopcodon in wt / mu CDS

3336 / 3345

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

1112 / 1115

Position of stopcodon in wt / mu cDNA

3632 / 3641

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

3334

cDNA position

3630

gDNA position

233191

Chromosomal position

64834564

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:

1:64834564A>G_1_ENST00000699262

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

Model: complex_aae
Tree vote: 2|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	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

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3682 / 3691

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

3463

cDNA position

3680

gDNA position

233191

Chromosomal position

64834564

Speed

0.12 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:

1:64834564A>G_5_ENST00000672751

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

Model: complex_aae
Tree vote: 2|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	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

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3693 / 3702

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

3463

cDNA position

3691

gDNA position

233191

Chromosomal position

64834564

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:

1:64834564A>G_6_ENST00000699312

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

Model: complex_aae
Tree vote: 2|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3463T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1155Q	-1156E	-1156A	-1156*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1155	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1155	N	L	I	E	G	F	E	A	L	L	K	q	e	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

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
SFQNLIEGFE ALLKQEA*

Position of stopcodon in wt / mu CDS

3465 / 3474

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

1155 / 1158

Position of stopcodon in wt / mu cDNA

3846 / 3855

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

3463

cDNA position

3844

gDNA position

233191

Chromosomal position

64834564

Speed

0.13 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:

1:64834564A>G_10_ENST00000699260

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

Model: complex_aae
Tree vote: 2|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3460T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1154Q	-1155E	-1155A	-1155*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1154	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1154	N	L	I	E	G	F	E	A	L	L	K	q	e	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)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
FQNLIEGFEA LLKQEA*

Position of stopcodon in wt / mu CDS

3462 / 3471

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

1154 / 1157

Position of stopcodon in wt / mu cDNA

3776 / 3785

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

3460

cDNA position

3774

gDNA position

233191

Chromosomal position

64834564

Speed

0.12 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:

1:64834564A>G_11_ENST00000699259

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

Model: complex_aae
Tree vote: 2|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (GRCh38)

Gene symbol

JAK1

Gene constraints

no data

Ensembl transcript ID

ENST00000699259.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3460T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1154Q	-1155E	-1155A	-1155*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1154	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1154	N	L	I	E	G	F	E	A	L	L	K	q	e	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)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
FQNLIEGFEA LLKQEA*

Position of stopcodon in wt / mu CDS

3462 / 3471

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

1154 / 1157

Position of stopcodon in wt / mu cDNA

3843 / 3852

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

3460

cDNA position

3841

gDNA position

233191

Chromosomal position

64834564

Speed

0.12 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:

1:64834564A>G_12_ENST00000699310

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

Model: complex_aae
Tree vote: 2|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (GRCh38)

Gene symbol

JAK1

Gene constraints

no data

Ensembl transcript ID

ENST00000699310.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3457T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1153Q	-1154E	-1154A	-1154*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1153	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1153	N	L	I	E	G	F	E	A	L	L	K	q	e	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)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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
QNLIEGFEAL LKQEA*

Position of stopcodon in wt / mu CDS

3459 / 3468

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

1153 / 1156

Position of stopcodon in wt / mu cDNA

3755 / 3764

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

3457

cDNA position

3753

gDNA position

233191

Chromosomal position

64834564

Speed

0.13 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:

1:64834564A>G_4_ENST00000672574

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Prolonged protein

Model: complex_aae
Tree vote: 3|7 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:64834564A>G (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

Single base exchange

Gene region

CDS

DNA changes

c.3358T>C
g.233191T>C

AA changes

original stopcodon lost, results in prolonged protein

AAE:	*1120Q	-1121E	-1121A	-1121*	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+3 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200563303
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	4	447	451

Protein conservation

Species	Match	AA	Alignment
Human		1120	N	L	I	E	G	F	E	A	L	L	K	*
mutated	partly conserved	1120	N	L	I	E	G	F	E	A	L	L	K	q	e	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)	1.985	0.995
	0.979	0.997
(flanking)	3.584	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

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered gDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

Original cDNA sequence snippet

GATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTT

Altered cDNA sequence snippet

GATTTGAAGCACTTTTAAAACAAGAAGCATGAATAACATTT

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 IEGFEALLKQ EA*

Position of stopcodon in wt / mu CDS

3360 / 3369

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

1120 / 1123

Position of stopcodon in wt / mu cDNA

3674 / 3683

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

3358

cDNA position

3672

gDNA position

233191

Chromosomal position

64834564

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

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