MutationT@ster 2025

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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 0.49 s - this script 2.949639 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
ENST00000644397(MANE Select)	PCDH15	Deleterious	10\|0	complex_aae	No	S1704*	Insertion	Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000373965	PCDH15	Deleterious	10\|0	complex_aae	No	S1641*	Insertion	Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000616114	PCDH15	Deleterious	10\|0	complex_aae	No	S1639*	Insertion	Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000621708	PCDH15	Deleterious	10\|0	complex_aae	No	S1646*	Insertion	Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000495484	PCDH15	Deleterious	10\|0	complex_aae	No	S380*	Insertion	Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)

MutationT@ster 2025

Variant:

10:53806693G>GTCAA_1_ENST00000644397

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

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

Analysed issue

Analysis result

Variant

Chr10:53806693_53806694insTCAA (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

Insertion

Gene region

CDS

DNA changes

c.5108_5109insTTGA
g.1821249_1821250insTTGA

AA changes

S1704* Score: 6.0?

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs770322907
gnomAD	homozygous (TCAA/TCAA)	heterozygous	allele carriers
	0	110	110

Protein conservation

Species	Match	AA	Alignment
Human		1704	K	S	T	V	E	Q	E	S	M	I	D	S	K	N	I	K	E	A	L	E	F	H	S	D	H	T	Q	S	D	D	E	E	L	W	M	G	P	W	N	N	L	H	I	P	M	T	K	L	*
mutated	no alignment	n/a
Ptroglodytes	no alignment	n/a
Mmulatta	no alignment	n/a
Fcatus	no alignment	n/a
Mmusculus	no alignment	n/a
Ggallus	partly conserved	2157	K	S	T	E	E	Q	E	S	V	V	D	N	E	D	T	K	E	P	L	E	S	H	S	E	H	T	Q	S	D	E	E	E	L	W	M	G	P	W	N	N	L	H	I	P	M	T	K	L
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)	2.107	1
(flanking)	5.96	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

10

Strand

-1

Original gDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered gDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

Original cDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered cDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

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
DNTAVKPLRN RLKSTVEQES MID*

Position of stopcodon in wt / mu CDS

5223 / 5112

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

1741 / 1704

Position of stopcodon in wt / mu cDNA

5558 / 5447

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

5108 / 5109

cDNA position

5443 / 5444

gDNA position

1821249 / 1821250

Chromosomal position

53806693 / 53806694

Speed

0.09 s

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

Back to summary table

MutationT@ster 2025

Variant:

10:53806693G>GTCAA_2_ENST00000373965

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

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

Analysed issue

Analysis result

Variant

Chr10:53806693_53806694insTCAA (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

Insertion

Gene region

CDS

DNA changes

c.4919_4920insTTGA
g.1821249_1821250insTTGA

AA changes

S1641* Score: 6.0?

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs770322907
gnomAD	homozygous (TCAA/TCAA)	heterozygous	allele carriers
	0	110	110

Protein conservation

Species	Match	AA	Alignment
Human		1641	K	S	T	V	E	Q	E	S	M	I	D	S	K	N	I	K	E	A	L	E	F	H	S	D
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.107	1
(flanking)	5.96	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

10

Strand

-1

Original gDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered gDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

Original cDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered cDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

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 APCPVGTDNT
AVKPLRNRLK STVEQESMID *

Position of stopcodon in wt / mu CDS

5034 / 4923

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

1678 / 1641

Position of stopcodon in wt / mu cDNA

5429 / 5318

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

4919 / 4920

cDNA position

5314 / 5315

gDNA position

1821249 / 1821250

Chromosomal position

53806693 / 53806694

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:

10:53806693G>GTCAA_3_ENST00000616114

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

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

Analysed issue

Analysis result

Variant

Chr10:53806693_53806694insTCAA (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

Insertion

Gene region

CDS

DNA changes

c.4913_4914insTTGA
g.1821249_1821250insTTGA

AA changes

S1639* Score: 6.0?

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs770322907
gnomAD	homozygous (TCAA/TCAA)	heterozygous	allele carriers
	0	110	110

Protein conservation

Species	Match	AA	Alignment
Human		1639	K	S	T	V	E	Q	E	S	M	I	D	S	K	N	I	K	E	A	L	E	F	H	S	D
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
27	1955	CHAIN		lost
1398	1955	TOPO_DOM	Cytoplasmic	lost
1745	1766	REGION		lost
1928	1955	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.107	1
(flanking)	5.96	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

10

Strand

-1

Original gDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered gDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

Original cDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered cDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

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 CPVGTDNTAV
KPLRNRLKST VEQESMID*

Position of stopcodon in wt / mu CDS

5028 / 4917

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

1676 / 1639

Position of stopcodon in wt / mu cDNA

5423 / 5312

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

4913 / 4914

cDNA position

5308 / 5309

gDNA position

1821249 / 1821250

Chromosomal position

53806693 / 53806694

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

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MutationT@ster 2025

Variant:

10:53806693G>GTCAA_4_ENST00000621708

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Prediction:

DeleteriousPermalink

Summary:

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

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

Analysed issue

Analysis result

Variant

Chr10:53806693_53806694insTCAA (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

Insertion

Gene region

CDS

DNA changes

c.4934_4935insTTGA
g.1821249_1821250insTTGA

AA changes

S1646* Score: 6.0?

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs770322907
gnomAD	homozygous (TCAA/TCAA)	heterozygous	allele carriers
	0	110	110

Protein conservation

Species	Match	AA	Alignment
Human		1646	K	S	T	V	E	Q	E	S	M	I	D	S	K	N	I	K	E	A	L	E	F	H	S	D
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.107	1
(flanking)	5.96	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

10

Strand

-1

Original gDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered gDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

Original cDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered cDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

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
GTDNTAVKPL RNRLKSTVEQ ESMID*

Position of stopcodon in wt / mu CDS

5049 / 4938

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

1683 / 1646

Position of stopcodon in wt / mu cDNA

5444 / 5333

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

4934 / 4935

cDNA position

5329 / 5330

gDNA position

1821249 / 1821250

Chromosomal position

53806693 / 53806694

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:

10:53806693G>GTCAA_5_ENST00000495484

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

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

Analysed issue

Analysis result

Variant

Chr10:53806693_53806694insTCAA (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

Insertion

Gene region

CDS

DNA changes

c.1136_1137insTTGA
g.1821249_1821250insTTGA

AA changes

S380* Score: 6.0?

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-37 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs770322907
gnomAD	homozygous (TCAA/TCAA)	heterozygous	allele carriers
	0	110	110

Protein conservation

Species	Match	AA	Alignment
Human		380	K	S	T	V	E	Q	E	S	M	I	D	S	K	N	I	K	E	A	L	E	F	H	S	D	H	T	Q	S	D	D	E	E	L	W	M	G	P	W	N	N	L	H	I	P	M	T	K	L	*
mutated	partly conserved	237					E	E	E	E	W	A	R	K	R	M	I	K	L	V	V	D	R	E	Y	E	T	S	S	T	G	E	D	S	A	P	E	C	Q	R	N	R	L	H	H	P
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)	2.107	1
(flanking)	5.96	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

10

Strand

-1

Original gDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered gDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

Original cDNA sequence snippet

GAACAGGAGTCCATGATTGACAGTAAGAACATCAAGGAGG

Altered cDNA sequence snippet

GAACAGGAGTCCATGATTGATTGACAGTAAGAACATCAAGGAGG

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 PCPVGTDNTA
VKPLRNRLKS TVEQESMID*

Position of stopcodon in wt / mu CDS

1251 / 1140

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

417 / 380

Position of stopcodon in wt / mu cDNA

1642 / 1531

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

1136 / 1137

cDNA position

1527 / 1528

gDNA position

1821249 / 1821250

Chromosomal position

53806693 / 53806694

Speed

0.07 s

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

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