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: ENST00000644397
Querying Taster for transcript #2: ENST00000373965
Querying Taster for transcript #3: ENST00000616114
Querying Taster for transcript #4: ENST00000621708
Querying Taster for transcript #5: ENST00000495484
MT speed 0.73 s - this script 3.155751 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000644397(MANE Select)	PCDH15	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000616114	PCDH15	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000373965	PCDH15	Benign	45\|55	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000495484	PCDH15	Benign	45\|55	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000621708	PCDH15	Benign	48\|52	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

10:53806757T>C_1_ENST00000644397

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 43|57 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:53806757T>C (GRCh38)

Gene symbol

PCDH15

Gene constraints

LOEUF: 0.82, LOF (oe): 0.69, misssense (oe): 1.01, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000644397.2

Genbank transcript ID

NM_001384140 (exact from MANE), NM_001354429 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.5045A>G
g.1821186A>G

AA changes

AAE:	N1682S	?
Score:	46

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs777886341
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		1682	V	T	F	A	P	C	P	V	G	T	D	N	T	A	V	K	P	L	R	N	R	L	K	S
mutated	all conserved	1682											D	S	T	A	V	K	P	L	R	N	R	L	K
Ptroglodytes	no alignment	n/a
Mmulatta	no alignment	n/a
Fcatus	no alignment	n/a
Mmusculus	no alignment	n/a
Ggallus	all identical	2135	V	S	F	A	-	S	S	I	G	A	E	N	I	V	T	K	P	G	G	S	K	M	K
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.088	0
	0.657	0.092
(flanking)	1.633	0.484

?

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

10

Strand

-1

Original gDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered gDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Original cDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered cDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Wildtype AA sequence

MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL
TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS
ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS
NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV
FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY
LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE
VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ
IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA
SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA
TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF
GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH
PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV
EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA
IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL
AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP
PPPGAHLYEE LGDSSIWSFC WQLVICMRTC AIWRTLTRRG YGSEQQQLLR PSLLKPEELS
MESGIDPGQE YGQDYYSYEH GYEMPQYGSR RRLLPPAGQE EYGEVVGEAE EEYEEEEWAR
KRMIKLVVDR EYETSSTGED SAPECQRNRL HHPSIHSNIN GNIYIAQNGS VVRTRRACLT
DNLKVASPVR LGGPFKKLDK LAVTHEENVP LNTLSKGPFS TEKMNARPTL VTFAPCPVGT
DNTAVKPLRN RLKSTVEQES MIDSKNIKEA LEFHSDHTQS DDEELWMGPW NNLHIPMTKL
*

Mutated AA sequence

MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL
TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS
ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS
NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV
FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY
LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE
VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ
IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA
SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA
TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF
GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH
PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV
EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA
IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL
AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP
PPPGAHLYEE LGDSSIWSFC WQLVICMRTC AIWRTLTRRG YGSEQQQLLR PSLLKPEELS
MESGIDPGQE YGQDYYSYEH GYEMPQYGSR RRLLPPAGQE EYGEVVGEAE EEYEEEEWAR
KRMIKLVVDR EYETSSTGED SAPECQRNRL HHPSIHSNIN GNIYIAQNGS VVRTRRACLT
DNLKVASPVR LGGPFKKLDK LAVTHEENVP LNTLSKGPFS TEKMNARPTL VTFAPCPVGT
DSTAVKPLRN RLKSTVEQES MIDSKNIKEA LEFHSDHTQS DDEELWMGPW NNLHIPMTKL
*

Position of stopcodon in wt / mu CDS

5223 / 5223

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

1741 / 1741

Position of stopcodon in wt / mu cDNA

5558 / 5558

Position of start ATG in wt / mu cDNA

336 / 336

Last intron/exon boundary

5006

Theoretical NMD boundary in CDS

4620

Length of CDS

5223

Coding sequence (CDS) position

5045

cDNA position

5380

gDNA position

1821186

Chromosomal position

53806757

Speed

0.15 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:

10:53806757T>C_3_ENST00000616114

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:53806757T>C (GRCh38)

Gene symbol

PCDH15

Gene constraints

LOEUF: 0.82, LOF (oe): 0.69, misssense (oe): 1.01, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000616114.4

Genbank transcript ID

NM_001354420 (by similarity)

UniProt / AlphaMissense peptide

PCD15_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4850A>G
g.1821186A>G

AA changes

AAE:	N1617S	?
Score:	46

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs777886341
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		1617	V	T	F	A	P	C	P	V	G	T	D	N	T	A	V	K	P	L	R	N	R	L	K	S
mutated	all conserved	1617	V	T	F	A	P	C	P	V	G	T	D	S	T	A	V
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
27	1955	CHAIN		lost
1398	1955	TOPO_DOM	Cytoplasmic	lost
1601	1623	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.088	0
	0.657	0.092
(flanking)	1.633	0.484

?

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

10

Strand

-1

Original gDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered gDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Original cDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered cDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Wildtype AA sequence

MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL
TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS
ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS
NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV
FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY
LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE
VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ
IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA
SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA
TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF
GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH
PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV
EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA
IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL
AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP
PPPGAHLYEE LGDSSMYEMP QYGSRRRLLP PAGQEEYGEV VGEAEEEYEE EEWARKRMIK
LVVDREYETS STGEDSAPEC QRNRLHHPSI HSNINGNIYI AQNGSVVRTR RACLTDNLKV
ASPVRLGGPF KKLDKLAVTH EENVPLNTLS KGPFSTEKMN ARPTLVTFAP CPVGTDNTAV
KPLRNRLKST VEQESMIDSK NIKEALEFHS DHTQSDDEEL WMGPWNNLHI PMTKL*

Mutated AA sequence

MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL
TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS
ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS
NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV
FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY
LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE
VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ
IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA
SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA
TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF
GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH
PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV
EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA
IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL
AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP
PPPGAHLYEE LGDSSMYEMP QYGSRRRLLP PAGQEEYGEV VGEAEEEYEE EEWARKRMIK
LVVDREYETS STGEDSAPEC QRNRLHHPSI HSNINGNIYI AQNGSVVRTR RACLTDNLKV
ASPVRLGGPF KKLDKLAVTH EENVPLNTLS KGPFSTEKMN ARPTLVTFAP CPVGTDSTAV
KPLRNRLKST VEQESMIDSK NIKEALEFHS DHTQSDDEEL WMGPWNNLHI PMTKL*

Position of stopcodon in wt / mu CDS

5028 / 5028

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

1676 / 1676

Position of stopcodon in wt / mu cDNA

5423 / 5423

Position of start ATG in wt / mu cDNA

396 / 396

Last intron/exon boundary

4871

Theoretical NMD boundary in CDS

4425

Length of CDS

5028

Coding sequence (CDS) position

4850

cDNA position

5245

gDNA position

1821186

Chromosomal position

53806757

Speed

0.15 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:

10:53806757T>C_2_ENST00000373965

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 45|55 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:53806757T>C (GRCh38)

Gene symbol

PCDH15

Gene constraints

LOEUF: 0.85, LOF (oe): 0.72, misssense (oe): 1.01, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000373965.6

Genbank transcript ID

NM_001142772 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4856A>G
g.1821186A>G

AA changes

AAE:	N1619S	?
Score:	46

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs777886341
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		1619	V	T	F	A	P	C	P	V	G	T	D	N	T	A	V	K	P	L	R	N	R	L	K	S
mutated	all conserved	1619	V	T	F	A	P	C	P	V	G	T	D	S	T	A	V	K	P	L	R	N	R	L	K
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)	0.088	0
	0.657	0.092
(flanking)	1.633	0.484

?

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

10

Strand

-1

Original gDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered gDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Original cDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered cDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Wildtype AA sequence

MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL
TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS
ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS
NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV
FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY
LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE
VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ
IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA
SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA
TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF
GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH
PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV
EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA
IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL
AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP
PPPGAHLYEE LGDSSMHKYE MPQYGSRRRL LPPAGQEEYG EVVGEAEEEY EEEEWARKRM
IKLVVDREYE TSSTGEDSAP ECQRNRLHHP SIHSNINGNI YIAQNGSVVR TRRACLTDNL
KVASPVRLGG PFKKLDKLAV THEENVPLNT LSKGPFSTEK MNARPTLVTF APCPVGTDNT
AVKPLRNRLK STVEQESMID SKNIKEALEF HSDHTQSDDE ELWMGPWNNL HIPMTKL*

Mutated AA sequence

MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL
TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS
ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS
NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV
FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY
LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE
VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ
IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA
SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA
TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF
GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH
PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV
EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA
IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL
AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP
PPPGAHLYEE LGDSSMHKYE MPQYGSRRRL LPPAGQEEYG EVVGEAEEEY EEEEWARKRM
IKLVVDREYE TSSTGEDSAP ECQRNRLHHP SIHSNINGNI YIAQNGSVVR TRRACLTDNL
KVASPVRLGG PFKKLDKLAV THEENVPLNT LSKGPFSTEK MNARPTLVTF APCPVGTDST
AVKPLRNRLK STVEQESMID SKNIKEALEF HSDHTQSDDE ELWMGPWNNL HIPMTKL*

Position of stopcodon in wt / mu CDS

5034 / 5034

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

1678 / 1678

Position of stopcodon in wt / mu cDNA

5429 / 5429

Position of start ATG in wt / mu cDNA

396 / 396

Last intron/exon boundary

4877

Theoretical NMD boundary in CDS

4431

Length of CDS

5034

Coding sequence (CDS) position

4856

cDNA position

5251

gDNA position

1821186

Chromosomal position

53806757

Speed

0.14 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:

10:53806757T>C_5_ENST00000495484

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 45|55 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:53806757T>C (GRCh38)

Gene symbol

PCDH15

Gene constraints

LOEUF: 0.92, LOF (oe): 0.63, misssense (oe): 1.02, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000495484.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1073A>G
g.1821186A>G

AA changes

AAE:	N358S	?
Score:	46

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs777886341
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		358	V	T	F	A	P	C	P	V	G	T	D	N	T	A	V	K	P	L	R	N	R	L	K	S
mutated	all conserved	358	V	T	F	A	P	C	P	V	G	T	D	S	T	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)	0.088	0
	0.657	0.092
(flanking)	1.633	0.484

?

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

10

Strand

-1

Original gDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered gDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Original cDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered cDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Wildtype AA sequence

MQVIVSNVPP TLVEKKIEDL TEILDRYVQE QIPGAKVVVE SIGARRHGDA FSLEDYTKCD
LTVYAIDPQT NRAIDRNELF KFLDGKLLDI NKDFQPYYGE GGRILEIRTP EAVTSIKKRG
ESLGYTEGAL LALAFIIILC CIPAILVVLV SYRQRGYGSE QQQLLRPSLL KPEELSMESG
IDPGQEYGQD YYSYEHGYEM PQYGSRRRLL PPAGQEEYGE VVGEAEEEYE EEEWARKRMI
KLVVDREYET SSTGEDSAPE CQRNRLHHPS IHSNINGNIY IAQNGSVVRT RRACLTDNLK
VASPVRLGGP FKKLDKLAVT HEENVPLNTL SKGPFSTEKM NARPTLVTFA PCPVGTDNTA
VKPLRNRLKS TVEQESMIDS KNIKEALEFH SDHTQSDDEE LWMGPWNNLH IPMTKL*

Mutated AA sequence

MQVIVSNVPP TLVEKKIEDL TEILDRYVQE QIPGAKVVVE SIGARRHGDA FSLEDYTKCD
LTVYAIDPQT NRAIDRNELF KFLDGKLLDI NKDFQPYYGE GGRILEIRTP EAVTSIKKRG
ESLGYTEGAL LALAFIIILC CIPAILVVLV SYRQRGYGSE QQQLLRPSLL KPEELSMESG
IDPGQEYGQD YYSYEHGYEM PQYGSRRRLL PPAGQEEYGE VVGEAEEEYE EEEWARKRMI
KLVVDREYET SSTGEDSAPE CQRNRLHHPS IHSNINGNIY IAQNGSVVRT RRACLTDNLK
VASPVRLGGP FKKLDKLAVT HEENVPLNTL SKGPFSTEKM NARPTLVTFA PCPVGTDSTA
VKPLRNRLKS TVEQESMIDS KNIKEALEFH SDHTQSDDEE LWMGPWNNLH IPMTKL*

Position of stopcodon in wt / mu CDS

1251 / 1251

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

417 / 417

Position of stopcodon in wt / mu cDNA

1642 / 1642

Position of start ATG in wt / mu cDNA

392 / 392

Last intron/exon boundary

1090

Theoretical NMD boundary in CDS

648

Length of CDS

1251

Coding sequence (CDS) position

1073

cDNA position

1464

gDNA position

1821186

Chromosomal position

53806757

Speed

0.14 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:

10:53806757T>C_4_ENST00000621708

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 48|52 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:53806757T>C (GRCh38)

Gene symbol

PCDH15

Gene constraints

LOEUF: 0.86, LOF (oe): 0.74, misssense (oe): 1.01, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000621708.4

Genbank transcript ID

NM_001142771 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4871A>G
g.1821186A>G

AA changes

AAE:	N1624S	?
Score:	46

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs777886341
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		1624	V	T	F	A	P	C	P	V	G	T	D	N	T	A	V	K	P	L	R	N	R	L	K	S
mutated	all conserved	1624									G	T	D	S	T	A	V	K	P	L	R	N	R	L	K
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)	0.088	0
	0.657	0.092
(flanking)	1.633	0.484

?

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

10

Strand

-1

Original gDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered gDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Original cDNA sequence snippet

TTGCCCTGTGGGGACTGACAATACAGCGGTGAAGCCACTAA

Altered cDNA sequence snippet

TTGCCCTGTGGGGACTGACAGTACAGCGGTGAAGCCACTAA

Wildtype AA sequence

MFRQFYLWTC LASGIILGSL FEICLGQYDD DWQYEDCKLA RGGPPATIVA IDEESRNGTI
LVDNMLIKGT AGGPDPTIEL SLKDNVDYWV LMDPVKQMLF LNSTGRVLDR DPPMNIHSIV
VQVQCINKKV GTIIYHEVRI VVRDRNDNSP TFKHESYYAT VNELTPVGTT IFTGFSGDNG
ATDIDDGPNG QIEYVIQYNP DDPTSNDTFE IPLMLTGNIV LRKRLNYEDK TRYFVIIQAN
DRAQNLNERR TTTTTLTVDV LDGDDLGPMF LPCVLVPNTR DCRPLTYQAA IPELRTPEEL
NPIIVTPPIQ AIDQDRNIQP PSDRPGILYS ILVGTPEDYP RFFHMHPRTA ELSLLEPVNR
DFHQKFDLVI KAEQDNGHPL PAFAGLHIEI LDENNQSPYF TMPSYQGYIL ESAPVGATIS
DSLNLTSPLR IVALDKDIED TKDPELHLFL NDYTSVFTVT QTGITRYLTL LQPVDREEQQ
TYTFSITAFD GVQESEPVIV NIQVMDANDN TPTFPEISYD VYVYTDMRPG DSVIQLTAVD
ADEGSNGEIT YEILVGAQGD FIINKTTGLI TIAPGVEMIV GRTYALTVQA ADNAPPAERR
NSICTVYIEV LPPNNQSPPR FPQLMYSLEI SEAMRVGAVL LNLQATDREG DSITYAIENG
DPQRVFNLSE TTGILTLGKA LDRESTDRYI LIITASDGRP DGTSTATVNI VVTDVNDNAP
VFDPYLPRNL SVVEEEANAF VGQVKATDPD AGINGQVHYS LGNFNNLFRI TSNGSIYTAV
KLNREVRDYY ELVVVATDGA VHPRHSTLTL AIKVLDIDDN SPVFTNSTYT VLVEENLPAG
TTILQIEAKD VDLGANVSYR IRSPEVKHFF ALHPFTGELS LLRSLDYEAF PDQEASITFL
VEAFDIYGTM PPGIATVTVI VKDMNDYPPV FSKRIYKGMV APDAVKGTPI TTVYAEDADP
PGLPASRVRY RVDDVQFPYP ASIFEVEEDS GRVITRVNLN EEPTTIFKLV VVAFDDGEPV
MSSSATVKIL VLHPGEIPRF TQEEYRPPPV SELATKGTMV GVISAAAINQ SIVYSIVSGN
EEDTFGINNI TGVIYVNGPL DYETRTSYVL RVQADSLEVV LANLRVPSKS NTAKVYIEIQ
DENNHPPVFQ KKFYIGGVSE DARMFTSVLR VKATDKDTGN YSVMAYRLII PPIKEGKEGF
VVETYTGLIK TAMLFHNMRR SYFKFQVIAT DDYGKGLSGK ADVLVSVVNQ LDMQVIVSNV
PPTLVEKKIE DLTEILDRYV QEQIPGAKVV VESIGARRHG DAFSLEDYTK CDLTVYAIDP
QTNRAIDRNE LFKFLDGKLL DINKDFQPYY GEGGRILEIR TPEAVTSIKK RGESLGYTEG
ALLALAFIII LCCIPAILVV LVSYRQFKVR QAECTKTARI QAALPAAKPA VPAPAPVAAP
PPPPPPPPGA HLYEELGDSS MHKYEMPQYG SRRRLLPPAG QEEYGEVVGE AEEEYEEEEW
ARKRMIKLVV DREYETSSTG EDSAPECQRN RLHHPSIHSN INGNIYIAQN GSVVRTRRAC
LTDNLKVASP VRLGGPFKKL DKLAVTHEEN VPLNTLSKGP FSTEKMNARP TLVTFAPCPV
GTDNTAVKPL RNRLKSTVEQ ESMIDSKNIK EALEFHSDHT QSDDEELWMG PWNNLHIPMT
KL*

Mutated AA sequence

MFRQFYLWTC LASGIILGSL FEICLGQYDD DWQYEDCKLA RGGPPATIVA IDEESRNGTI
LVDNMLIKGT AGGPDPTIEL SLKDNVDYWV LMDPVKQMLF LNSTGRVLDR DPPMNIHSIV
VQVQCINKKV GTIIYHEVRI VVRDRNDNSP TFKHESYYAT VNELTPVGTT IFTGFSGDNG
ATDIDDGPNG QIEYVIQYNP DDPTSNDTFE IPLMLTGNIV LRKRLNYEDK TRYFVIIQAN
DRAQNLNERR TTTTTLTVDV LDGDDLGPMF LPCVLVPNTR DCRPLTYQAA IPELRTPEEL
NPIIVTPPIQ AIDQDRNIQP PSDRPGILYS ILVGTPEDYP RFFHMHPRTA ELSLLEPVNR
DFHQKFDLVI KAEQDNGHPL PAFAGLHIEI LDENNQSPYF TMPSYQGYIL ESAPVGATIS
DSLNLTSPLR IVALDKDIED TKDPELHLFL NDYTSVFTVT QTGITRYLTL LQPVDREEQQ
TYTFSITAFD GVQESEPVIV NIQVMDANDN TPTFPEISYD VYVYTDMRPG DSVIQLTAVD
ADEGSNGEIT YEILVGAQGD FIINKTTGLI TIAPGVEMIV GRTYALTVQA ADNAPPAERR
NSICTVYIEV LPPNNQSPPR FPQLMYSLEI SEAMRVGAVL LNLQATDREG DSITYAIENG
DPQRVFNLSE TTGILTLGKA LDRESTDRYI LIITASDGRP DGTSTATVNI VVTDVNDNAP
VFDPYLPRNL SVVEEEANAF VGQVKATDPD AGINGQVHYS LGNFNNLFRI TSNGSIYTAV
KLNREVRDYY ELVVVATDGA VHPRHSTLTL AIKVLDIDDN SPVFTNSTYT VLVEENLPAG
TTILQIEAKD VDLGANVSYR IRSPEVKHFF ALHPFTGELS LLRSLDYEAF PDQEASITFL
VEAFDIYGTM PPGIATVTVI VKDMNDYPPV FSKRIYKGMV APDAVKGTPI TTVYAEDADP
PGLPASRVRY RVDDVQFPYP ASIFEVEEDS GRVITRVNLN EEPTTIFKLV VVAFDDGEPV
MSSSATVKIL VLHPGEIPRF TQEEYRPPPV SELATKGTMV GVISAAAINQ SIVYSIVSGN
EEDTFGINNI TGVIYVNGPL DYETRTSYVL RVQADSLEVV LANLRVPSKS NTAKVYIEIQ
DENNHPPVFQ KKFYIGGVSE DARMFTSVLR VKATDKDTGN YSVMAYRLII PPIKEGKEGF
VVETYTGLIK TAMLFHNMRR SYFKFQVIAT DDYGKGLSGK ADVLVSVVNQ LDMQVIVSNV
PPTLVEKKIE DLTEILDRYV QEQIPGAKVV VESIGARRHG DAFSLEDYTK CDLTVYAIDP
QTNRAIDRNE LFKFLDGKLL DINKDFQPYY GEGGRILEIR TPEAVTSIKK RGESLGYTEG
ALLALAFIII LCCIPAILVV LVSYRQFKVR QAECTKTARI QAALPAAKPA VPAPAPVAAP
PPPPPPPPGA HLYEELGDSS MHKYEMPQYG SRRRLLPPAG QEEYGEVVGE AEEEYEEEEW
ARKRMIKLVV DREYETSSTG EDSAPECQRN RLHHPSIHSN INGNIYIAQN GSVVRTRRAC
LTDNLKVASP VRLGGPFKKL DKLAVTHEEN VPLNTLSKGP FSTEKMNARP TLVTFAPCPV
GTDSTAVKPL RNRLKSTVEQ ESMIDSKNIK EALEFHSDHT QSDDEELWMG PWNNLHIPMT
KL*

Position of stopcodon in wt / mu CDS

5049 / 5049

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

1683 / 1683

Position of stopcodon in wt / mu cDNA

5444 / 5444

Position of start ATG in wt / mu cDNA

396 / 396

Last intron/exon boundary

4892

Theoretical NMD boundary in CDS

4446

Length of CDS

5049

Coding sequence (CDS) position

4871

cDNA position

5266

gDNA position

1821186

Chromosomal position

53806757

Speed

0.15 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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