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: ENST00000651438
Querying Taster for transcript #2: ENST00000355480
Querying Taster for transcript #3: ENST00000359759
MT speed 0.16 s - this script 2.554674 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000359759	COL18A1	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000355480	COL18A1	Deleterious	79\|21	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000651438(MANE Select)	COL18A1	Benign	35\|165	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

21:45455858G>T_3_ENST00000359759

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr21:45455858G>T (GRCh38)

Gene symbol

COL18A1

Gene constraints

LOEUF: 0.98, LOF (oe): 0.84, misssense (oe): 1.15, synonymous (oe): 1.24 ? (gnomAD)

Ensembl transcript ID

ENST00000359759.8

Genbank transcript ID

NM_130444 (by similarity)

UniProt / AlphaMissense peptide

COIA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.328G>T
g.50694G>T

AA changes

AAE:	V110F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		110	S	P	D	A	P	E	E	N	I	A	G	V	G	A	E	I	L	N	V	A	K	G	I	R
mutated	not conserved	110	S	P	D	A	P	E	E	N	I	A	G	F	G	A	E	I	L	N	V	A	K	G
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
24	1754	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-3.214	0
	1.789	0.868
(flanking)	3.658	0.884

?

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

21

Strand

1

Original gDNA sequence snippet

CAGAGGAGAACATTGCCGGTGTCGGAGCCGAGATCCTGAAC

Altered gDNA sequence snippet

CAGAGGAGAACATTGCCGGTTTCGGAGCCGAGATCCTGAAC

Original cDNA sequence snippet

CAGAGGAGAACATTGCCGGTGTCGGAGCCGAGATCCTGAAC

Altered cDNA sequence snippet

CAGAGGAGAACATTGCCGGTTTCGGAGCCGAGATCCTGAAC

Wildtype AA sequence

MAPYPCGCHI LLLLFCCLAA ARANLLNLNW LWFNNEDTSH AATTIPEPQG PLPVQPTADT
TTHVTPRNGS TEPATAPGSP EPPSELLEDG QDTPTSAESP DAPEENIAGV GAEILNVAKG
IRSFVQLWND TVPTESLARA ETLVLETPVG PLALAGPSST PQENGTTLWP SRGIPSSPGA
HTTEAGTLPA PTPSPPSLGR PWAPLTGPSV PPPSSGRASL SSLLGGAPPW GSLQDPDSQG
LSPAAAAPSQ QLQRPDVRLR TPLLHPLVMG SLGKHAAPSA FSSGLPGALS QVAVTTLTRD
SGAWVSHVAN SVGPGLANNS ALLGADPEAP AGRCLPLPPS LPVCGHLGIS RFWLPNHLHH
ESGEQVRAGA RAWGGLLQTH CHPFLAWFFC LLLVPPCGSV PPPAPPPCCQ FCEALQDACW
SRLGGGRLPV ACASLPTQED GYCVLIGPAA ERISEEVGLL QLLGDPPPQQ VTQTDDPDVG
LAYVFGPDAN SGQVARYHFP SLFFRDFSLL FHIRPATEGP GVLFAITDSA QAMVLLGVKL
SGVQDGHQDI SLLYTEPGAG QTHTAASFRL PAFVGQWTHL ALSVAGGFVA LYVDCEEFQR
MPLARSSRGL ELEPGAGLFV AQAGGADPDK FQGVIAELKV RRDPQVSPMH CLDEEGDDSD
GASGDSGSGL GDARELLREE TGAALKPRLP APPPVTTPPL AGGSSTEDSR SEEVEEQTTV
ASLGAQTLPG SDSVSTWDGS VRTPGGRVKE GGLKGQKGEP GVPGPPGRAG PPGSPCLPGP
PGLPCPVSPL GPAGPALQTV PGPQGPPGPP GRDGTPGRDG EPGDPGEDGK PGDTGPQGFP
GTPGDVGPKG DKGDPGVGER GPPGPQGPPG PPGPSFRHDK LTFIDMEGSG FGGDLEALRG
PRGFPGPPGP PGVPGLPGEP GRFGVNSSDV PGPAGLPGVP GREGPPGFPG LPGPPGPPGR
EGPPGRTGQK GSLGEAGAPG HKGSKGAPGP AGARGESGLA GAPGPAGPPG PPGPPGPPGP
GLPAGFDDME GSGGPFWSTA RSADGPQGPP GLPGLKGDPG VPGLPGAKGE VGADGVPGFP
GLPGREGIAG PQGPKGDRGS RGEKGDPGKD GVGQPGLPGP PGPPGPVVYV SEQDGSVLSV
PGPEGRPGFA GFPGPAGPKG NLGSKGERGS PGPKGEKGEP GSIFSPDGGA LGPAQKGAKG
EPGFRGPPGP YGRPGYKGEI GFPGRPGRPG MNGLKGEKGE PGDASLGFGM RGMPGPPGPP
GPPGPPGTPV YDSNVFAESS RPGPPGLPGN QGPPGPKGAK GEVGPPGPPG QFPFDFLQLE
AEMKGEKGDR GDAGQKGERG EPGGGGFFGS SLPGPPGPPG PPGPRGYPGI PGPKGESIRG
QPGPPGPQGP PGIGYEGRQG PPGPPGPPGP PSFPGPHRQT ISVPGPPGPP GPPGPPGTMG
ASSGVRLWAT RQAMLGQVHE VPEGWLIFVA EQEELYVRVQ NGFRKVQLEA RTPLPRGTDN
EVAALQPPVV QLHDSNPYPR REHPHPTARP WRADDILASP PRLPEPQPYP GAPHHSSYVH
LRPARPTSPP AHSHRDFQPV LHLVALNSPL SGGMRGIRGA DFQCFQQARA VGLAGTFRAF
LSSRLQDLYS IVRRADRAAV PIVNLKDELL FPSWEALFSG SEGPLKPGAR IFSFDGKDVL
RHPTWPQKSV WHGSDPNGRR LTESYCETWR TEAPSATGQA SSLLGGRLLG QSAASCHHAY
IVLCIENSFM TASK*

Mutated AA sequence

MAPYPCGCHI LLLLFCCLAA ARANLLNLNW LWFNNEDTSH AATTIPEPQG PLPVQPTADT
TTHVTPRNGS TEPATAPGSP EPPSELLEDG QDTPTSAESP DAPEENIAGF GAEILNVAKG
IRSFVQLWND TVPTESLARA ETLVLETPVG PLALAGPSST PQENGTTLWP SRGIPSSPGA
HTTEAGTLPA PTPSPPSLGR PWAPLTGPSV PPPSSGRASL SSLLGGAPPW GSLQDPDSQG
LSPAAAAPSQ QLQRPDVRLR TPLLHPLVMG SLGKHAAPSA FSSGLPGALS QVAVTTLTRD
SGAWVSHVAN SVGPGLANNS ALLGADPEAP AGRCLPLPPS LPVCGHLGIS RFWLPNHLHH
ESGEQVRAGA RAWGGLLQTH CHPFLAWFFC LLLVPPCGSV PPPAPPPCCQ FCEALQDACW
SRLGGGRLPV ACASLPTQED GYCVLIGPAA ERISEEVGLL QLLGDPPPQQ VTQTDDPDVG
LAYVFGPDAN SGQVARYHFP SLFFRDFSLL FHIRPATEGP GVLFAITDSA QAMVLLGVKL
SGVQDGHQDI SLLYTEPGAG QTHTAASFRL PAFVGQWTHL ALSVAGGFVA LYVDCEEFQR
MPLARSSRGL ELEPGAGLFV AQAGGADPDK FQGVIAELKV RRDPQVSPMH CLDEEGDDSD
GASGDSGSGL GDARELLREE TGAALKPRLP APPPVTTPPL AGGSSTEDSR SEEVEEQTTV
ASLGAQTLPG SDSVSTWDGS VRTPGGRVKE GGLKGQKGEP GVPGPPGRAG PPGSPCLPGP
PGLPCPVSPL GPAGPALQTV PGPQGPPGPP GRDGTPGRDG EPGDPGEDGK PGDTGPQGFP
GTPGDVGPKG DKGDPGVGER GPPGPQGPPG PPGPSFRHDK LTFIDMEGSG FGGDLEALRG
PRGFPGPPGP PGVPGLPGEP GRFGVNSSDV PGPAGLPGVP GREGPPGFPG LPGPPGPPGR
EGPPGRTGQK GSLGEAGAPG HKGSKGAPGP AGARGESGLA GAPGPAGPPG PPGPPGPPGP
GLPAGFDDME GSGGPFWSTA RSADGPQGPP GLPGLKGDPG VPGLPGAKGE VGADGVPGFP
GLPGREGIAG PQGPKGDRGS RGEKGDPGKD GVGQPGLPGP PGPPGPVVYV SEQDGSVLSV
PGPEGRPGFA GFPGPAGPKG NLGSKGERGS PGPKGEKGEP GSIFSPDGGA LGPAQKGAKG
EPGFRGPPGP YGRPGYKGEI GFPGRPGRPG MNGLKGEKGE PGDASLGFGM RGMPGPPGPP
GPPGPPGTPV YDSNVFAESS RPGPPGLPGN QGPPGPKGAK GEVGPPGPPG QFPFDFLQLE
AEMKGEKGDR GDAGQKGERG EPGGGGFFGS SLPGPPGPPG PPGPRGYPGI PGPKGESIRG
QPGPPGPQGP PGIGYEGRQG PPGPPGPPGP PSFPGPHRQT ISVPGPPGPP GPPGPPGTMG
ASSGVRLWAT RQAMLGQVHE VPEGWLIFVA EQEELYVRVQ NGFRKVQLEA RTPLPRGTDN
EVAALQPPVV QLHDSNPYPR REHPHPTARP WRADDILASP PRLPEPQPYP GAPHHSSYVH
LRPARPTSPP AHSHRDFQPV LHLVALNSPL SGGMRGIRGA DFQCFQQARA VGLAGTFRAF
LSSRLQDLYS IVRRADRAAV PIVNLKDELL FPSWEALFSG SEGPLKPGAR IFSFDGKDVL
RHPTWPQKSV WHGSDPNGRR LTESYCETWR TEAPSATGQA SSLLGGRLLG QSAASCHHAY
IVLCIENSFM TASK*

Position of stopcodon in wt / mu CDS

5265 / 5265

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

1755 / 1755

Position of stopcodon in wt / mu cDNA

5265 / 5265

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

5054

Theoretical NMD boundary in CDS

5003

Length of CDS

5265

Coding sequence (CDS) position

328

cDNA position

328

gDNA position

50694

Chromosomal position

45455858

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:

21:45455858G>T_2_ENST00000355480

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 79|21 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr21:45455858G>T (GRCh38)

Gene symbol

COL18A1

Gene constraints

LOEUF: 0.95, LOF (oe): 0.81, misssense (oe): 1.15, synonymous (oe): 1.24 ? (gnomAD)

Ensembl transcript ID

ENST00000355480.10

Genbank transcript ID

NM_030582 (by similarity)

UniProt / AlphaMissense peptide

COIA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.328G>T
g.50694G>T

AA changes

AAE:	V110F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		110	S	P	D	A	P	E	E	N	I	A	G	V	G	A	E	I	L	N	V	A	K	G	I	R
mutated	not conserved	110	S	P	D	A	P	E	E	N	I	A	G	F	G	A	E	I	L	N	V	A	K	G
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
24	1754	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-3.214	0
	1.789	0.868
(flanking)	3.658	0.884

?

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

21

Strand

1

Original gDNA sequence snippet

CAGAGGAGAACATTGCCGGTGTCGGAGCCGAGATCCTGAAC

Altered gDNA sequence snippet

CAGAGGAGAACATTGCCGGTTTCGGAGCCGAGATCCTGAAC

Original cDNA sequence snippet

CAGAGGAGAACATTGCCGGTGTCGGAGCCGAGATCCTGAAC

Altered cDNA sequence snippet

CAGAGGAGAACATTGCCGGTTTCGGAGCCGAGATCCTGAAC

Wildtype AA sequence

MAPYPCGCHI LLLLFCCLAA ARANLLNLNW LWFNNEDTSH AATTIPEPQG PLPVQPTADT
TTHVTPRNGS TEPATAPGSP EPPSELLEDG QDTPTSAESP DAPEENIAGV GAEILNVAKG
IRSFVQLWND TVPTESLARA ETLVLETPVG PLALAGPSST PQENGTTLWP SRGIPSSPGA
HTTEAGTLPA PTPSPPSLGR PWAPLTGPSV PPPSSERISE EVGLLQLLGD PPPQQVTQTD
DPDVGLAYVF GPDANSGQVA RYHFPSLFFR DFSLLFHIRP ATEGPGVLFA ITDSAQAMVL
LGVKLSGVQD GHQDISLLYT EPGAGQTHTA ASFRLPAFVG QWTHLALSVA GGFVALYVDC
EEFQRMPLAR SSRGLELEPG AGLFVAQAGG ADPDKFQGVI AELKVRRDPQ VSPMHCLDEE
GDDSDGASGD SGSGLGDARE LLREETGAAL KPRLPAPPPV TTPPLAGGSS TEDSRSEEVE
EQTTVASLGA QTLPGSDSVS TWDGSVRTPG GRVKEGGLKG QKGEPGVPGP PGRAGPPGSP
CLPGPPGLPC PVSPLGPAGP ALQTVPGPQG PPGPPGRDGT PGRDGEPGDP GEDGKPGDTG
PQGFPGTPGD VGPKGDKGDP GVGERGPPGP QGPPGPPGPS FRHDKLTFID MEGSGFGGDL
EALRGPRGFP GPPGPPGVPG LPGEPGRFGV NSSDVPGPAG LPGVPGREGP PGFPGLPGPP
GPPGREGPPG RTGQKGSLGE AGAPGHKGSK GAPGPAGARG ESGLAGAPGP AGPPGPPGPP
GPPGPGLPAG FDDMEGSGGP FWSTARSADG PQGPPGLPGL KGDPGVPGLP GAKGEVGADG
VPGFPGLPGR EGIAGPQGPK GDRGSRGEKG DPGKDGVGQP GLPGPPGPPG PVVYVSEQDG
SVLSVPGPEG RPGFAGFPGP AGPKGNLGSK GERGSPGPKG EKGEPGSIFS PDGGALGPAQ
KGAKGEPGFR GPPGPYGRPG YKGEIGFPGR PGRPGMNGLK GEKGEPGDAS LGFGMRGMPG
PPGPPGPPGP PGTPVYDSNV FAESSRPGPP GLPGNQGPPG PKGAKGEVGP PGPPGQFPFD
FLQLEAEMKG EKGDRGDAGQ KGERGEPGGG GFFGSSLPGP PGPPGPPGPR GYPGIPGPKG
ESIRGQPGPP GPQGPPGIGY EGRQGPPGPP GPPGPPSFPG PHRQTISVPG PPGPPGPPGP
PGTMGASSGV RLWATRQAML GQVHEVPEGW LIFVAEQEEL YVRVQNGFRK VQLEARTPLP
RGTDNEVAAL QPPVVQLHDS NPYPRREHPH PTARPWRADD ILASPPRLPE PQPYPGAPHH
SSYVHLRPAR PTSPPAHSHR DFQPVLHLVA LNSPLSGGMR GIRGADFQCF QQARAVGLAG
TFRAFLSSRL QDLYSIVRRA DRAAVPIVNL KDELLFPSWE ALFSGSEGPL KPGARIFSFD
GKDVLRHPTW PQKSVWHGSD PNGRRLTESY CETWRTEAPS ATGQASSLLG GRLLGQSAAS
CHHAYIVLCI ENSFMTASK*

Mutated AA sequence

MAPYPCGCHI LLLLFCCLAA ARANLLNLNW LWFNNEDTSH AATTIPEPQG PLPVQPTADT
TTHVTPRNGS TEPATAPGSP EPPSELLEDG QDTPTSAESP DAPEENIAGF GAEILNVAKG
IRSFVQLWND TVPTESLARA ETLVLETPVG PLALAGPSST PQENGTTLWP SRGIPSSPGA
HTTEAGTLPA PTPSPPSLGR PWAPLTGPSV PPPSSERISE EVGLLQLLGD PPPQQVTQTD
DPDVGLAYVF GPDANSGQVA RYHFPSLFFR DFSLLFHIRP ATEGPGVLFA ITDSAQAMVL
LGVKLSGVQD GHQDISLLYT EPGAGQTHTA ASFRLPAFVG QWTHLALSVA GGFVALYVDC
EEFQRMPLAR SSRGLELEPG AGLFVAQAGG ADPDKFQGVI AELKVRRDPQ VSPMHCLDEE
GDDSDGASGD SGSGLGDARE LLREETGAAL KPRLPAPPPV TTPPLAGGSS TEDSRSEEVE
EQTTVASLGA QTLPGSDSVS TWDGSVRTPG GRVKEGGLKG QKGEPGVPGP PGRAGPPGSP
CLPGPPGLPC PVSPLGPAGP ALQTVPGPQG PPGPPGRDGT PGRDGEPGDP GEDGKPGDTG
PQGFPGTPGD VGPKGDKGDP GVGERGPPGP QGPPGPPGPS FRHDKLTFID MEGSGFGGDL
EALRGPRGFP GPPGPPGVPG LPGEPGRFGV NSSDVPGPAG LPGVPGREGP PGFPGLPGPP
GPPGREGPPG RTGQKGSLGE AGAPGHKGSK GAPGPAGARG ESGLAGAPGP AGPPGPPGPP
GPPGPGLPAG FDDMEGSGGP FWSTARSADG PQGPPGLPGL KGDPGVPGLP GAKGEVGADG
VPGFPGLPGR EGIAGPQGPK GDRGSRGEKG DPGKDGVGQP GLPGPPGPPG PVVYVSEQDG
SVLSVPGPEG RPGFAGFPGP AGPKGNLGSK GERGSPGPKG EKGEPGSIFS PDGGALGPAQ
KGAKGEPGFR GPPGPYGRPG YKGEIGFPGR PGRPGMNGLK GEKGEPGDAS LGFGMRGMPG
PPGPPGPPGP PGTPVYDSNV FAESSRPGPP GLPGNQGPPG PKGAKGEVGP PGPPGQFPFD
FLQLEAEMKG EKGDRGDAGQ KGERGEPGGG GFFGSSLPGP PGPPGPPGPR GYPGIPGPKG
ESIRGQPGPP GPQGPPGIGY EGRQGPPGPP GPPGPPSFPG PHRQTISVPG PPGPPGPPGP
PGTMGASSGV RLWATRQAML GQVHEVPEGW LIFVAEQEEL YVRVQNGFRK VQLEARTPLP
RGTDNEVAAL QPPVVQLHDS NPYPRREHPH PTARPWRADD ILASPPRLPE PQPYPGAPHH
SSYVHLRPAR PTSPPAHSHR DFQPVLHLVA LNSPLSGGMR GIRGADFQCF QQARAVGLAG
TFRAFLSSRL QDLYSIVRRA DRAAVPIVNL KDELLFPSWE ALFSGSEGPL KPGARIFSFD
GKDVLRHPTW PQKSVWHGSD PNGRRLTESY CETWRTEAPS ATGQASSLLG GRLLGQSAAS
CHHAYIVLCI ENSFMTASK*

Position of stopcodon in wt / mu CDS

4560 / 4560

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

1520 / 1520

Position of stopcodon in wt / mu cDNA

4569 / 4569

Position of start ATG in wt / mu cDNA

10 / 10

Last intron/exon boundary

4358

Theoretical NMD boundary in CDS

4298

Length of CDS

4560

Coding sequence (CDS) position

328

cDNA position

337

gDNA position

50694

Chromosomal position

45455858

Speed

0.08 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:

21:45455858G>T_1_ENST00000651438

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 35|165 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr21:45455858G>T (GRCh38)

Gene symbol

COL18A1

Gene constraints

LOEUF: 1.00, LOF (oe): 0.86, misssense (oe): 1.19, synonymous (oe): 1.28 ? (gnomAD)

Ensembl transcript ID

ENST00000651438.1

Genbank transcript ID

NM_001379500 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.107-12384G>T
g.50694G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-3.214	0
	1.789	0.868
(flanking)	3.658	0.884

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

21

Strand

1

Original gDNA sequence snippet

CAGAGGAGAACATTGCCGGTGTCGGAGCCGAGATCCTGAAC

Altered gDNA sequence snippet

CAGAGGAGAACATTGCCGGTTTCGGAGCCGAGATCCTGAAC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAPRCPWPWP RRRRLLDVLA PLVLLLGVRA ASAEPERISE EVGLLQLLGD PPPQQVTQTD
DPDVGLAYVF GPDANSGQVA RYHFPSLFFR DFSLLFHIRP ATEGPGVLFA ITDSAQAMVL
LGVKLSGVQD GHQDISLLYT EPGAGQTHTA ASFRLPAFVG QWTHLALSVA GGFVALYVDC
EEFQRMPLAR SSRGLELEPG AGLFVAQAGG ADPDKFQGVI AELKVRRDPQ VSPMHCLDEE
GDDSDGASGD SGSGLGDARE LLREETGAAL KPRLPAPPPV TTPPLAGGSS TEDSRSEEVE
EQTTVASLGA QTLPGSDSVS TWDGSVRTPG GRVKEGGLKG QKGEPGVPGP PGRAGPPGSP
CLPGPPGLPC PVSPLGPAGP ALQTVPGPQG PPGPPGRDGT PGRDGEPGDP GEDGKPGDTG
PQGFPGTPGD VGPKGDKGDP GVGERGPPGP QGPPGPPGPS FRHDKLTFID MEGSGFGGDL
EALRGPRGFP GPPGPPGVPG LPGEPGRFGV NSSDVPGPAG LPGVPGREGP PGFPGLPGPP
GPPGREGPPG RTGQKGSLGE AGAPGHKGSK GAPGPAGARG ESGLAGAPGP AGPPGPPGPP
GPPGPGLPAG FDDMEGSGGP FWSTARSADG PQGPPGLPGL KGDPGVPGLP GAKGEVGADG
VPGFPGLPGR EGIAGPQGPK GDRGSRGEKG DPGKDGVGQP GLPGPPGPPG PVVYVSEQDG
SVLSVPGPEG RPGFAGFPGP AGPKGNLGSK GERGSPGPKG EKGEPGSIFS PDGGALGPAQ
KGAKGEPGFR GPPGPYGRPG YKGEIGFPGR PGRPGMNGLK GEKGEPGDAS LGFGMRGMPG
PPGPPGPPGP PGTPVYDSNV FAESSRPGPP GLPGNQGPPG PKGAKGEVGP PGPPGQFPFD
FLQLEAEMKG EKGDRGDAGQ KGERGEPGGG GFFGSSLPGP PGPPGPPGPR GYPGIPGPKG
ESIRGQPGPP GPQGPPGIGY EGRQGPPGPP GPPGPPSFPG PHRQTISVPG PPGPPGPPGP
PGTMGASSGV RLWATRQAML GQVHEVPEGW LIFVAEQEEL YVRVQNGFRK VQLEARTPLP
RGTDNEVAAL QPPVVQLHDS NPYPRREHPH PTARPWRADD ILASPPRLPE PQPYPGAPHH
SSYVHLRPAR PTSPPAHSHR DFQPVLHLVA LNSPLSGGMR GIRGADFQCF QQARAVGLAG
TFRAFLSSRL QDLYSIVRRA DRAAVPIVNL KDELLFPSWE ALFSGSEGPL KPGARIFSFD
GKDVLRHPTW PQKSVWHGSD PNGRRLTESY CETWRTEAPS ATGQASSLLG GRLLGQSAAS
CHHAYIVLCI ENSFMTASK*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

67 / 67

Last intron/exon boundary

3875

Theoretical NMD boundary in CDS

3758

Length of CDS

4020

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

50694

Chromosomal position

45455858

Speed

0.02 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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