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: ENST00000689994
Querying Taster for transcript #2: ENST00000687295
Querying Taster for transcript #3: ENST00000687109
Querying Taster for transcript #4: ENST00000687246
Querying Taster for transcript #5: ENST00000690543
Querying Taster for transcript #6: ENST00000288135
Querying Taster for transcript #7: ENST00000689832
Querying Taster for transcript #8: ENST00000686011
Querying Taster for transcript #9: ENST00000692783
Querying Taster for transcript #10: ENST00000412167
MT speed 0.63 s - this script 3.081454 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
ENST00000689994	KIT	Deleterious	10\|0	complex_aae	No	Y248*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000687109	KIT	Deleterious	10\|0	complex_aae	No	Y419*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000687246	KIT	Deleterious	10\|0	complex_aae	No	Y418*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000690543	KIT	Deleterious	10\|0	complex_aae	No	Y419*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000687295	KIT	Deleterious	10\|0	complex_aae	No	Y418*	Single base exchange	NMD	Amino acid sequence changed NMD Protein features (might be) affected
ENST00000689832	KIT	Deleterious	10\|0	complex_aae	No	Y419*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000686011	KIT	Deleterious	10\|0	complex_aae	No	Y418*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000692783	KIT	Deleterious	10\|0	complex_aae	No	Y418*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000412167	KIT	Deleterious	10\|0	complex_aae	No	Y419*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000288135(MANE Select)	KIT	Deleterious	10\|0	complex_aae	No	Y418*	Single base exchange	NMD	Amino acid sequence changed NMD Protein features (might be) affected

MutationT@ster 2025

Variant:

4:54723606C>G_1_ENST00000689994

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.27, LOF (oe): 0.17, misssense (oe): 0.65, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000689994.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.744C>G
g.66340C>G

AA changes

Y248* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		248	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MIKSVKRAYH RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT
VTCTIKDVSS SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC
YANNTFGSAN VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY
MNRTFTDKWE DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN
TKPEILTYDR LVNGMLQCVA AGFPEPTIDW YFCPGTEQRC SASVLPVDVQ TLNSSGPPFG
KLVVQSSIDS SAFKHNGTVE CKAYNDVGKT SAYFNFAFKG NNKEQIHPHT LFTPLLIGFV
IVAGMMCIIV MILTYKYLQK PMYEVQWKVV EEINGNNYVY IDPTQLPYDH KWEFPRNRLS
FGKTLGAGAF GKVVEATAYG LIKSDAAMTV AVKMLKPSAH LTEREALMSE LKVLSYLGNH
MNIVNLLGAC TIGGPTLVIT EYCCYGDLLN FLRRKRDSFI CSKQEDHAEA ALYKNLLHSK
ESSCSDSTNE YMDMKPGVSY VVPTKADKRR SVRIGSYIER DVTPAIMEDD ELALDLEDLL
SFSYQVAKGM AFLASKNCIH RDLAARNILL THGRITKICD FGLARDIKND SNYVVKGNAR
LPVKWMAPES IFNCVYTFES DVWSYGIFLW ELFSLGSSPY PGMPVDSKFY KMIKEGFRML
SPEHAPAEMY DIMKTCWDAD PLKRPTFKQI VQLIEKQISE STNHIYSNLA NCSPNRQKPV
VDHSVRINSV GSTASSSQPL LVHDDV*

Mutated AA sequence

MIKSVKRAYH RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT
VTCTIKDVSS SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC
YANNTFGSAN VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY
MNRTFTDKWE DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN
TKPEILT*

Position of stopcodon in wt / mu CDS

2421 / 744

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

807 / 248

Position of stopcodon in wt / mu cDNA

2953 / 1276

Position of start ATG in wt / mu cDNA

533 / 533

Last intron/exon boundary

2824

Theoretical NMD boundary in CDS

2241

Length of CDS

2421

Coding sequence (CDS) position

744

cDNA position

1276

gDNA position

66340

Chromosomal position

54723606

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:

4:54723606C>G_3_ENST00000687109

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.67, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000687109.1

Genbank transcript ID

NM_001385284 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1257C>G
g.66340C>G

AA changes

Y419* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		419	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQQTKLQEKY NSWHHGDFNY ERQATLTISS ARVNDSGVFM CYANNTFGSA
NVTTTLEVVD KGFINIFPMI NTTVFVNDGE NVDLIVEYEA FPKPEHQQWI YMNRTFTDKW
EDYPKSENES NIRYVSELHL TRLKGTEGGT YTFLVSNSDV NAAIAFNVYV NTKPEILTYD
RLVNGMLQCV AAGFPEPTID WYFCPGTEQR CSASVLPVDV QTLNSSGPPF GKLVVQSSID
SSAFKHNGTV ECKAYNDVGK TSAYFNFAFK GNNKEQIHPH TLFTPLLIGF VIVAGMMCII
VMILTYKYLQ KPMYEVQWKV VEEINGNNYV YIDPTQLPYD HKWEFPRNRL SFGKTLGAGA
FGKVVEATAY GLIKSDAAMT VAVKMLKPSA HLTEREALMS ELKVLSYLGN HMNIVNLLGA
CTIGGPTLVI TEYCCYGDLL NFLRRKRDSF ICSKQEDHAE AALYKNLLHS KESSCSDSTN
EYMDMKPGVS YVVPTKADKR RSVRIGSYIE RDVTPAIMED DELALDLEDL LSFSYQVAKG
MAFLASKNCI HRDLAARNIL LTHGRITKIC DFGLARDIKN DSNYVVKGNA RLPVKWMAPE
SIFNCVYTFE SDVWSYGIFL WELFSLGSSP YPGMPVDSKF YKMIKEGFRM LSPEHAPAEM
YDIMKTCWDA DPLKRPTFKQ IVQLIEKQIS ESTNHIYSNL ANCSPNRQKP VVDHSVRINS
VGSTASSSQP LLVHDDV*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQQTKLQEKY NSWHHGDFNY ERQATLTISS ARVNDSGVFM CYANNTFGSA
NVTTTLEVVD KGFINIFPMI NTTVFVNDGE NVDLIVEYEA FPKPEHQQWI YMNRTFTDKW
EDYPKSENES NIRYVSELHL TRLKGTEGGT YTFLVSNSDV NAAIAFNVYV NTKPEILT*

Position of stopcodon in wt / mu CDS

2934 / 1257

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

978 / 419

Position of stopcodon in wt / mu cDNA

3036 / 1359

Position of start ATG in wt / mu cDNA

103 / 103

Last intron/exon boundary

2907

Theoretical NMD boundary in CDS

2754

Length of CDS

2934

Coding sequence (CDS) position

1257

cDNA position

1359

gDNA position

66340

Chromosomal position

54723606

Speed

0.05 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:

4:54723606C>G_4_ENST00000687246

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.23, LOF (oe): 0.14, misssense (oe): 0.68, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000687246.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1254C>G
g.66340C>G

AA changes

Y418* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		418	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILTYDR
LVNGMLQCVA AGFPEPTIDW YFCPGTEQRC SASVLPVDVQ TLNSSGPPFG KLVVQSSIDS
SAFKHNGTVE CKAYNDVGKT SAYFNFAFKE QIHPHTLFTP LLIGFVIVAG MMCIIVMILT
YKYLQKPMYE VQWKVVEEIN GNNYVYIDPT QLPYDHKWEF PRNRLSFGKT LGAGAFGKVV
EATAYGLIKS DAAMTVAVKM LKPSAHLTER EALMSELKVL SYLGNHMNIV NLLGACTIGG
PTLVITEYCC YGDLLNFLRR KRDSFICSKQ EDHAEAALYK NLLHSKESSC SDSTNEYMDM
KPGVSYVVPT KADKRRSVRI GSYIERDVTP AIMEDDELAL DLEDLLSFSY QVAKGMAFLA
SKNARLPVKW MAPESIFNCV YTFESDVWSY GIFLWELFSL GSSPYPGMPV DSKFYKMIKE
GFRMLSPEHA PAEMYDIMKT CWDADPLKRP TFKQIVQLIE KQISESTNHI YSNLANCSPN
RQKPVVDHSV RINSVGSTAS SSQPLLVHDD V*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILT*

Position of stopcodon in wt / mu CDS

2796 / 1254

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

932 / 418

Position of stopcodon in wt / mu cDNA

2864 / 1322

Position of start ATG in wt / mu cDNA

69 / 69

Last intron/exon boundary

2735

Theoretical NMD boundary in CDS

2616

Length of CDS

2796

Coding sequence (CDS) position

1254

cDNA position

1322

gDNA position

66340

Chromosomal position

54723606

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:

4:54723606C>G_5_ENST00000690543

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.21, LOF (oe): 0.13, misssense (oe): 0.67, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000690543.1

Genbank transcript ID

NM_001385288 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1257C>G
g.66340C>G

AA changes

Y419* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		419	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQQTKLQEKY NSWHHGDFNY ERQATLTISS ARVNDSGVFM CYANNTFGSA
NVTTTLEVVD KGFINIFPMI NTTVFVNDGE NVDLIVEYEA FPKPEHQQWI YMNRTFTDKW
EDYPKSENES NIRYVSELHL TRLKGTEGGT YTFLVSNSDV NAAIAFNVYV NTKPEILTYD
RLVNGMLQCV AAGFPEPTID WYFCPGTEQR CSASVLPVDV QTLNSSGPPF GKLVVQSSID
SSAFKHNGTV ECKAYNDVGK TSAYFNFAFK EQIHPHTLFT PLLIGFVIVA GMMCIIVMIL
TYKYLQKPMY EVQWKVVEEI NGNNYVYIDP TQLPYDHKWE FPRNRLSFGK TLGAGAFGKV
VEATAYGLIK SDAAMTVAVK MLKPSAHLTE REALMSELKV LSYLGNHMNI VNLLGACTIG
GPTLVITEYC CYGDLLNFLR RKRDSFICSK QEDHAEAALY KNLLHSKESS CSDSTNEYMD
MKPGVSYVVP TKADKRRSVR IGSYIERDVT PAIMEDDELA LDLEDLLSFS YQVAKGMAFL
ASKNCIHRDL AARNILLTHG RITKICDFGL ARDIKNDSNY VVKGNARLPV KWMAPESIFN
CVYTFESDVW SYGIFLWELF SLGSSPYPGM PVDSKFYKMI KEGFRMLSPE HAPAEMYDIM
KTCWDADPLK RPTFKQIVQL IEKQISESTN HIYSNLANCS PNRQKPVVDH SVRINSVGST
ASSSQPLLVH DDV*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQQTKLQEKY NSWHHGDFNY ERQATLTISS ARVNDSGVFM CYANNTFGSA
NVTTTLEVVD KGFINIFPMI NTTVFVNDGE NVDLIVEYEA FPKPEHQQWI YMNRTFTDKW
EDYPKSENES NIRYVSELHL TRLKGTEGGT YTFLVSNSDV NAAIAFNVYV NTKPEILT*

Position of stopcodon in wt / mu CDS

2922 / 1257

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

974 / 419

Position of stopcodon in wt / mu cDNA

2980 / 1315

Position of start ATG in wt / mu cDNA

59 / 59

Last intron/exon boundary

2851

Theoretical NMD boundary in CDS

2742

Length of CDS

2922

Coding sequence (CDS) position

1257

cDNA position

1315

gDNA position

66340

Chromosomal position

54723606

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:

4:54723606C>G_2_ENST00000687295

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.21, LOF (oe): 0.14, misssense (oe): 0.66, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000687295.1

Genbank transcript ID

NM_001093772 (by similarity)

UniProt / AlphaMissense peptide

KIT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1254C>G
g.66340C>G

AA changes

Y418* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		418	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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
26	524	TOPO_DOM	Extracellular	lost
26	976	CHAIN		lost
411	420	STRAND		lost
413	507	DOMAIN	Ig-like C2-type	lost
422	424	HELIX		lost
425	434	STRAND		lost
428	428	DISULFID		lost
437	444	STRAND		lost
445	449	STRAND		lost
452	454	STRAND		lost
458	462	STRAND		lost
463	463	CARBOHYD	N-linked (GlcNAc...) asparagine	lost
465	468	STRAND		lost
472	479	STRAND		lost
481	483	HELIX		lost
485	494	STRAND		lost
486	486	CARBOHYD	N-linked (GlcNAc...) asparagine	lost
499	506	STRAND		lost
525	545	TRANSMEM	Helical	lost
546	976	TOPO_DOM	Cytoplasmic	lost
547	547	MOD_RES	Phosphotyrosine	lost
550	552	HELIX		lost
553	553	MOD_RES	Phosphotyrosine	lost
558	564	STRAND		lost
567	570	STRAND		lost
568	568	MOD_RES	Phosphotyrosine	lost
568	568	BINDING	Mg(2+)	lost
568	570	REGION	Important for interaction with phosphotyrosine- binding proteins	lost
570	570	MOD_RES	Phosphotyrosine	lost
573	575	HELIX		lost
580	582	HELIX		lost
586	588	HELIX		lost
589	597	STRAND		lost
589	937	DOMAIN	Protein kinase	lost
596	603	BINDING	ATP	lost
599	609	STRAND		lost
611	613	STRAND		lost
617	625	STRAND		lost
623	623	BINDING	ATP	lost
627	629	HELIX		lost
631	647	HELIX		lost
656	660	STRAND		lost
662	664	STRAND		lost
667	671	STRAND		lost
671	677	BINDING	ATP	lost
674	677	STRAND		lost
678	685	HELIX		lost
686	689	HELIX		lost
703	703	MOD_RES	Phosphotyrosine	lost
719	721	STRAND		lost
721	721	MOD_RES	Phosphotyrosine	lost
730	730	MOD_RES	Phosphotyrosine	lost
741	741	MOD_RES	Phosphoserine	lost
746	746	MOD_RES	Phosphoserine	lost
754	756	HELIX		lost
757	759	STRAND		lost
760	762	HELIX		lost
766	785	HELIX		lost
788	790	STRAND		lost
792	792	ACT_SITE		lost
795	797	HELIX		lost
796	796	BINDING	ATP	lost
797	797	BINDING	Mg(2+)	lost
798	801	STRAND		lost
802	804	HELIX		lost
805	808	STRAND		lost
810	810	BINDING	Mg(2+)	lost
812	814	HELIX		lost
818	820	TURN		lost
821	821	MOD_RES	Phosphoserine	lost
821	824	STRAND		lost
823	823	MOD_RES	Phosphotyrosine	lost
827	831	STRAND		lost
833	835	HELIX		lost
838	843	HELIX		lost
848	863	HELIX		lost
864	866	TURN		lost
869	872	STRAND		lost
877	885	HELIX		lost
891	891	MOD_RES	Phosphoserine	lost
897	906	HELIX		lost
900	900	MOD_RES	Phosphotyrosine	lost
911	913	HELIX		lost
917	930	HELIX		lost
931	933	TURN		lost
936	936	MOD_RES	Phosphotyrosine	lost
936	936	SITE	Important for interaction with phosphotyrosine- binding proteins	lost
959	959	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILTYDR
LVNGMLQCVA AGFPEPTIDW YFCPGTEQRC SASVLPVDVQ TLNSSGPPFG KLVVQSSIDS
SAFKHNGTVE CKAYNDVGKT SAYFNFAFKE QIHPHTLFTP LLIGFVIVAG MMCIIVMILT
YKYLQKPMYE VQWKVVEEIN GNNYVYIDPT QLPYDHKWEF PRNRLSFGKT LGAGAFGKVV
EATAYGLIKS DAAMTVAVKM LKPSAHLTER EALMSELKVL SYLGNHMNIV NLLGACTIGG
PTLVITEYCC YGDLLNFLRR KRDSFICSKQ EDHAEAALYK NLLHSKESSC SDSTNEYMDM
KPGVSYVVPT KADKRRSVRI GSYIERDVTP AIMEDDELAL DLEDLLSFSY QVAKGMAFLA
SKNCIHRDLA ARNILLTHGR ITKICDFGLA RDIKNDSNYV VKGNARLPVK WMAPESIFNC
VYTFESDVWS YGIFLWELFS LGSSPYPGMP VDSKFYKMIK EGFRMLSPEH APAEMYDIMK
TCWDADPLKR PTFKQIVQLI EKQISESTNH IYSNLANCSP NRQKPVVDHS VRINSVGSTA
SSSQPLLVHD DV*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILT*

Position of stopcodon in wt / mu CDS

2919 / 1254

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

973 / 418

Position of stopcodon in wt / mu cDNA

3045 / 1380

Position of start ATG in wt / mu cDNA

127 / 127

Last intron/exon boundary

2916

Theoretical NMD boundary in CDS

2739

Length of CDS

2919

Coding sequence (CDS) position

1254

cDNA position

1380

gDNA position

66340

Chromosomal position

54723606

Speed

0.05 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:

4:54723606C>G_7_ENST00000689832

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.25, LOF (oe): 0.16, misssense (oe): 0.67, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000689832.1

Genbank transcript ID

NM_001385290 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1257C>G
g.66340C>G

AA changes

Y419* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		419	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQQTKLQEKY NSWHHGDFNY ERQATLTISS ARVNDSGVFM CYANNTFGSA
NVTTTLEVVD KGFINIFPMI NTTVFVNDGE NVDLIVEYEA FPKPEHQQWI YMNRTFTDKW
EDYPKSENES NIRYVSELHL TRLKGTEGGT YTFLVSNSDV NAAIAFNVYV NTKPEILTYD
RLVNGMLQCV AAGFPEPTID WYFCPGTEQR CSASVLPVDV QTLNSSGPPF GKLVVQSSID
SSAFKHNGTV ECKAYNDVGK TSAYFNFAFK GNNKEQIHPH TLFTPLLIGF VIVAGMMCII
VMILTYKYLQ KPMYEVQWKV VEEINGNNYV YIDPTQLPYD HKWEFPRNRL SFGKTLGAGA
FGKVVEATAY GLIKSDAAMT VAVKMLKPSA HLTEREALMS ELKVLSYLGN HMNIVNLLGA
CTIGGPTLVI TEYCCYGDLL NFLRRKRDSF ICSKQEDHAE AALYKNLLHS KESSCDSTNE
YMDMKPGVSY VVPTKADKRR SVRIGSYIER DVTPAIMEDD ELALDLEDLL SFSYQVAKGM
AFLASKNCIH RDLAARNILL THGRITKICD FGLARDIKND SNYVVKGNAR LPVKWMAPES
IFNCVYTFES DVWSYGIFLW ELFSLGSSPY PGMPVDSKFY KMIKEGFRML SPEHAPAEMY
DIMKTCWDAD PLKRPTFKQI VQLIEKQISE STNHIYSNLA NCSPNRQKPV VDHSVRINSV
GSTASSSQPL LVHDDV*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQQTKLQEKY NSWHHGDFNY ERQATLTISS ARVNDSGVFM CYANNTFGSA
NVTTTLEVVD KGFINIFPMI NTTVFVNDGE NVDLIVEYEA FPKPEHQQWI YMNRTFTDKW
EDYPKSENES NIRYVSELHL TRLKGTEGGT YTFLVSNSDV NAAIAFNVYV NTKPEILT*

Position of stopcodon in wt / mu CDS

2931 / 1257

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

977 / 419

Position of stopcodon in wt / mu cDNA

2979 / 1305

Position of start ATG in wt / mu cDNA

49 / 49

Last intron/exon boundary

2850

Theoretical NMD boundary in CDS

2751

Length of CDS

2931

Coding sequence (CDS) position

1257

cDNA position

1305

gDNA position

66340

Chromosomal position

54723606

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:

4:54723606C>G_8_ENST00000686011

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.23, LOF (oe): 0.14, misssense (oe): 0.66, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000686011.1

Genbank transcript ID

NM_001385286 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1254C>G
g.66340C>G

AA changes

Y418* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		418	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILTYDR
LVNGMLQCVA AGFPEPTIDW YFCPGTEQRC SASVLPVDVQ TLNSSGPPFG KLVVQSSIDS
SAFKHNGTVE CKAYNDVGKT SAYFNFAFKE QIHPHTLFTP LLIGFVIVAG MMCIIVMILT
YKYLQKPMYE VQWKVVEEIN GNNYVYIDPT QLPYDHKWEF PRNRLSFGKT LGAGAFGKVV
EATAYGLIKS DAAMTVAVKM LKPSAHLTER EALMSELKVL SYLGNHMNIV NLLGACTIGG
PTLVITEYCC YGDLLNFLRR KRDSFICSKQ EDHAEAALYK NLLHSKESSC DSTNEYMDMK
PGVSYVVPTK ADKRRSVRIG SYIERDVTPA IMEDDELALD LEDLLSFSYQ VAKGMAFLAS
KNCIHRDLAA RNILLTHGRI TKICDFGLAR DIKNDSNYVV KGNARLPVKW MAPESIFNCV
YTFESDVWSY GIFLWELFSL GSSPYPGMPV DSKFYKMIKE GFRMLSPEHA PAEMYDIMKT
CWDADPLKRP TFKQIVQLIE KQISESTNHI YSNLANCSPN RQKPVVDHSV RINSVGSTAS
SSQPLLVHDD V*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILT*

Position of stopcodon in wt / mu CDS

2916 / 1254

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

972 / 418

Position of stopcodon in wt / mu cDNA

2989 / 1327

Position of start ATG in wt / mu cDNA

74 / 74

Last intron/exon boundary

2860

Theoretical NMD boundary in CDS

2736

Length of CDS

2916

Coding sequence (CDS) position

1254

cDNA position

1327

gDNA position

66340

Chromosomal position

54723606

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:

4:54723606C>G_9_ENST00000692783

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.25, LOF (oe): 0.17, misssense (oe): 0.66, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000692783.1

Genbank transcript ID

NM_001385285 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1254C>G
g.66340C>G

AA changes

Y418* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		418	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILTYDR
LVNGMLQCVA AGFPEPTIDW YFCPGTEQRC SASVLPVDVQ TLNSSGPPFG KLVVQSSIDS
SAFKHNGTVE CKAYNDVGKT SAYFNFAFKG NNKEQIHPHT LFTPLLIGFV IVAGMMCIIV
MILTYKYLQK PMYEVQWKVV EEINGNNYVY IDPTQLPYDH KWEFPRNRLS FGKTLGAGAF
GKVVEATAYG LIKSDAAMTV AVKMLKPSAH LTEREALMSE LKVLSYLGNH MNIVNLLGAC
TIGGPTLVIT EYCCYGDLLN FLRRKRDSFI CSKQEDHAEA ALYKNLLHSK ESSCDSTNEY
MDMKPGVSYV VPTKADKRRS VRIGSYIERD VTPAIMEDDE LALDLEDLLS FSYQVAKGMA
FLASKNCIHR DLAARNILLT HGRITKICDF GLARDIKNDS NYVVKGNARL PVKWMAPESI
FNCVYTFESD VWSYGIFLWE LFSLGSSPYP GMPVDSKFYK MIKEGFRMLS PEHAPAEMYD
IMKTCWDADP LKRPTFKQIV QLIEKQISES TNHIYSNLAN CSPNRQKPVV DHSVRINSVG
STASSSQPLL VHDDV*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILT*

Position of stopcodon in wt / mu CDS

2928 / 1254

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

976 / 418

Position of stopcodon in wt / mu cDNA

3020 / 1346

Position of start ATG in wt / mu cDNA

93 / 93

Last intron/exon boundary

2891

Theoretical NMD boundary in CDS

2748

Length of CDS

2928

Coding sequence (CDS) position

1254

cDNA position

1346

gDNA position

66340

Chromosomal position

54723606

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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MutationT@ster 2025

Variant:

4:54723606C>G_10_ENST00000412167

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.23, LOF (oe): 0.14, misssense (oe): 0.67, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000412167.7

Genbank transcript ID

NM_001385292 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1257C>G
g.66340C>G

AA changes

Y419* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		419	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A
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)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQQTKLQEKY NSWHHGDFNY ERQATLTISS ARVNDSGVFM CYANNTFGSA
NVTTTLEVVD KGFINIFPMI NTTVFVNDGE NVDLIVEYEA FPKPEHQQWI YMNRTFTDKW
EDYPKSENES NIRYVSELHL TRLKGTEGGT YTFLVSNSDV NAAIAFNVYV NTKPEILTYD
RLVNGMLQCV AAGFPEPTID WYFCPGTEQR CSASVLPVDV QTLNSSGPPF GKLVVQSSID
SSAFKHNGTV ECKAYNDVGK TSAYFNFAFK EQIHPHTLFT PLLIGFVIVA GMMCIIVMIL
TYKYLQKPMY EVQWKVVEEI NGNNYVYIDP TQLPYDHKWE FPRNRLSFGK TLGAGAFGKV
VEATAYGLIK SDAAMTVAVK MLKPSAHLTE REALMSELKV LSYLGNHMNI VNLLGACTIG
GPTLVITEYC CYGDLLNFLR RKRDSFICSK QEDHAEAALY KNLLHSKESS CDSTNEYMDM
KPGVSYVVPT KADKRRSVRI GSYIERDVTP AIMEDDELAL DLEDLLSFSY QVAKGMAFLA
SKNCIHRDLA ARNILLTHGR ITKICDFGLA RDIKNDSNYV VKGNARLPVK WMAPESIFNC
VYTFESDVWS YGIFLWELFS LGSSPYPGMP VDSKFYKMIK EGFRMLSPEH APAEMYDIMK
TCWDADPLKR PTFKQIVQLI EKQISESTNH IYSNLANCSP NRQKPVVDHS VRINSVGSTA
SSSQPLLVHD DV*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQQTKLQEKY NSWHHGDFNY ERQATLTISS ARVNDSGVFM CYANNTFGSA
NVTTTLEVVD KGFINIFPMI NTTVFVNDGE NVDLIVEYEA FPKPEHQQWI YMNRTFTDKW
EDYPKSENES NIRYVSELHL TRLKGTEGGT YTFLVSNSDV NAAIAFNVYV NTKPEILT*

Position of stopcodon in wt / mu CDS

2919 / 1257

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

973 / 419

Position of stopcodon in wt / mu cDNA

3011 / 1349

Position of start ATG in wt / mu cDNA

93 / 93

Last intron/exon boundary

2882

Theoretical NMD boundary in CDS

2739

Length of CDS

2919

Coding sequence (CDS) position

1257

cDNA position

1349

gDNA position

66340

Chromosomal position

54723606

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:

4:54723606C>G_6_ENST00000288135

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr4:54723606C>G (GRCh38)

Gene symbol

KIT

Gene constraints

LOEUF: 0.24, LOF (oe): 0.16, misssense (oe): 0.66, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000288135.6

Genbank transcript ID

NM_000222 (exact from MANE)

UniProt / AlphaMissense peptide

KIT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1254C>G
g.66340C>G

AA changes

Y418* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		418	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A	A	G	F	P	E	P	T	I	D	W	Y	F	C	P	G	T	E	Q	R	C	S	A	S	V	L	P	V	D	V	Q	T	L	N	S	S	G	P	P	F	G	K	L	V	V	Q	S	S	I	D	S	S	A	F	K	H	N	G	T	V	E	C	K	A	Y	N	D	V	G	K	T	S	A	Y	F	N	F	A	F	K	G	N	N	K	E	Q	I	H	P	H	T	L	F	T	P	L	L	I	G	F	V	I	V	A	G	M	M	C	I	I	V	M	I	L	T	Y	K	Y	L	Q
mutated	no alignment	n/a
Ptroglodytes	all identical	418	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A	A	G	F	P	E	P	T	I	D	W	Y	F	C	P	G	T	E	Q	R	C	S	A	S	V	L	P	V	D	V	Q	T	L	N	S	S	G	P	P	F	G	K	L	V	V	Q	S	S	I	D	S
Mmulatta	all conserved	418	V	Y	V	N	T	K	P	E	I	L	T	Y	D	R	L	V	N	G	M	L	Q	C	V	A	A	G	F	P	E	P	T	I	D	W	Y	F	C	P	G	T	E	Q	R	C	S	A	S	V	L	P	V	D	V	Q	T	L	N	A	S	G	P	P	F	G	K	L	V	V	Q	S	S	I	D	S
Fcatus	partly conserved	420	V	Y	V	N	T	K	P	E	I	L	T	H	E	S	L	V	S	G	I	L	Q	C	L	V	A	G	F	P	E	P	T	V	D	W	Y	F	C	P	G	A	E	Q	R	C	P	V	P	V	G	P	L	D	V	Q	M	Q	N	S	S	V	S	P	S	G	K	L	V	V	Q	S	S	I
Mmusculus	partly conserved	421												Y	D	R	L	I	N	G	M	L	Q	C	V	A	E	G	F	P	E	P	T	I	D	W	Y	F	C	T	G	A	E	Q	R	C	T	T	P	V	S	P	V	D	V	Q	V	Q	N	V	S	V	S	P	F	G	K	L	V	V	Q	S	S	I	D	S	S	V	F	R	H	N	G	T	V	E	C	K	A	S	N	D	V	G	K	S	S	A	F	F	N	F	A	F	K	G	N	N	K	E	Q	I	Q	A	H	T	L	F	T	P	L	L	I	G	F	V	V	A	A	G	A	M	G
Ggallus	partly conserved	404												L	D	M	L	G	N	D	I	L	Q	C	V	A	T	G	F	P	A	P	T	I	Y	W	Y	F	C	P	G	T	E	Q	R	CLD	S	P	T	I	S	P	M	D	V	K	VSY	T	N	S	S	V	P	S	F	E	R	I	L	V	E	S	T	V	N	A	S	M	F	K	S	T	G	T	I	C	C	E	A	S	S	N	G	D	K	S	S	V	F	F	N	F	A	I	K	-	-	-	-	E	Q	I	R	T	H	T	L	F	T	P	L	L	I	A	F	G	V	A	A
Trubripes	partly conserved	1381	I	F	V	I	S	K	P	E	I	V	S	H	E	G	P	V	D	G	Q	V	R	C	V	A	E	G	F	P	A	P	Q	I	T	W	Y	Y	C	E	Q	P	Y	A	R	C	S	Q	Q	V	N	A	TQEEQ	N	V	I	T	V	T	L	F	S	P	L	F	G	K	T	E	V	E	S	R	V	N	I	S	R	G	R	F	S	-	T	L	E	C	V	A	T	V	E	G	E	Q	A	F	T	L	F	S	I	S	-	-	-	-	-	-	E	R	T	I	S
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	partly conserved	421								E	I	L	I	A	D	R	T	S	E	G	T	L	Q	C	V	A	T	G	F	P	V	P	A	I	Q	W	Y	F	C	P	G	S	E	Q	R	C	TDY	P	P	I	L	P	V	N	E	K	F	I	Q	E	N	S	S	-	L	G	R	V	V	V	E	S	T	I	D	V	N	H	I	K	K	N	G	T	V	Q	C	V	A	S	N	E	V	E	S	A	S	S	V	F	S	F	A	I	K	-	-	-	-	E	K	V	R	A	H	T	L	F	T	P	L	L	I	G	F	I	V

Protein features

Start (aa)	End (aa)	Feature	Details
26	524	TOPO_DOM	Extracellular	lost
26	976	CHAIN		lost
411	420	STRAND		lost
413	507	DOMAIN	Ig-like C2-type	lost
422	424	HELIX		lost
425	434	STRAND		lost
428	428	DISULFID		lost
437	444	STRAND		lost
445	449	STRAND		lost
452	454	STRAND		lost
458	462	STRAND		lost
463	463	CARBOHYD	N-linked (GlcNAc...) asparagine	lost
465	468	STRAND		lost
472	479	STRAND		lost
481	483	HELIX		lost
485	494	STRAND		lost
486	486	CARBOHYD	N-linked (GlcNAc...) asparagine	lost
499	506	STRAND		lost
525	545	TRANSMEM	Helical	lost
546	976	TOPO_DOM	Cytoplasmic	lost
547	547	MOD_RES	Phosphotyrosine	lost
550	552	HELIX		lost
553	553	MOD_RES	Phosphotyrosine	lost
558	564	STRAND		lost
567	570	STRAND		lost
568	568	MOD_RES	Phosphotyrosine	lost
568	568	BINDING	Mg(2+)	lost
568	570	REGION	Important for interaction with phosphotyrosine- binding proteins	lost
570	570	MOD_RES	Phosphotyrosine	lost
573	575	HELIX		lost
580	582	HELIX		lost
586	588	HELIX		lost
589	597	STRAND		lost
589	937	DOMAIN	Protein kinase	lost
596	603	BINDING	ATP	lost
599	609	STRAND		lost
611	613	STRAND		lost
617	625	STRAND		lost
623	623	BINDING	ATP	lost
627	629	HELIX		lost
631	647	HELIX		lost
656	660	STRAND		lost
662	664	STRAND		lost
667	671	STRAND		lost
671	677	BINDING	ATP	lost
674	677	STRAND		lost
678	685	HELIX		lost
686	689	HELIX		lost
703	703	MOD_RES	Phosphotyrosine	lost
719	721	STRAND		lost
721	721	MOD_RES	Phosphotyrosine	lost
730	730	MOD_RES	Phosphotyrosine	lost
741	741	MOD_RES	Phosphoserine	lost
746	746	MOD_RES	Phosphoserine	lost
754	756	HELIX		lost
757	759	STRAND		lost
760	762	HELIX		lost
766	785	HELIX		lost
788	790	STRAND		lost
792	792	ACT_SITE		lost
795	797	HELIX		lost
796	796	BINDING	ATP	lost
797	797	BINDING	Mg(2+)	lost
798	801	STRAND		lost
802	804	HELIX		lost
805	808	STRAND		lost
810	810	BINDING	Mg(2+)	lost
812	814	HELIX		lost
818	820	TURN		lost
821	821	MOD_RES	Phosphoserine	lost
821	824	STRAND		lost
823	823	MOD_RES	Phosphotyrosine	lost
827	831	STRAND		lost
833	835	HELIX		lost
838	843	HELIX		lost
848	863	HELIX		lost
864	866	TURN		lost
869	872	STRAND		lost
877	885	HELIX		lost
891	891	MOD_RES	Phosphoserine	lost
897	906	HELIX		lost
900	900	MOD_RES	Phosphotyrosine	lost
911	913	HELIX		lost
917	930	HELIX		lost
931	933	TURN		lost
936	936	MOD_RES	Phosphotyrosine	lost
936	936	SITE	Important for interaction with phosphotyrosine- binding proteins	lost
959	959	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.335	0
	-0.963	0
(flanking)	4.976	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

4

Strand

1

Original gDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered gDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Original cDNA sequence snippet

AAACCAGAAATCCTGACTTACGACAGGCTCGTGAATGGCAT

Altered cDNA sequence snippet

AAACCAGAAATCCTGACTTAGGACAGGCTCGTGAATGGCAT

Wildtype AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILTYDR
LVNGMLQCVA AGFPEPTIDW YFCPGTEQRC SASVLPVDVQ TLNSSGPPFG KLVVQSSIDS
SAFKHNGTVE CKAYNDVGKT SAYFNFAFKG NNKEQIHPHT LFTPLLIGFV IVAGMMCIIV
MILTYKYLQK PMYEVQWKVV EEINGNNYVY IDPTQLPYDH KWEFPRNRLS FGKTLGAGAF
GKVVEATAYG LIKSDAAMTV AVKMLKPSAH LTEREALMSE LKVLSYLGNH MNIVNLLGAC
TIGGPTLVIT EYCCYGDLLN FLRRKRDSFI CSKQEDHAEA ALYKNLLHSK ESSCSDSTNE
YMDMKPGVSY VVPTKADKRR SVRIGSYIER DVTPAIMEDD ELALDLEDLL SFSYQVAKGM
AFLASKNCIH RDLAARNILL THGRITKICD FGLARDIKND SNYVVKGNAR LPVKWMAPES
IFNCVYTFES DVWSYGIFLW ELFSLGSSPY PGMPVDSKFY KMIKEGFRML SPEHAPAEMY
DIMKTCWDAD PLKRPTFKQI VQLIEKQISE STNHIYSNLA NCSPNRQKPV VDHSVRINSV
GSTASSSQPL LVHDDV*

Mutated AA sequence

MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH PGKSDLIVRV GDEIRLLCTD
PGFVKWTFEI LDETNENKQN EWITEKAEAT NTGKYTCTNK HGLSNSIYVF VRDPAKLFLV
DRSLYGKEDN DTLVRCPLTD PEVTNYSLKG CQGKPLPKDL RFIPDPKAGI MIKSVKRAYH
RLCLHCSVDQ EGKSVLSEKF ILKVRPAFKA VPVVSVSKAS YLLREGEEFT VTCTIKDVSS
SVYSTWKREN SQTKLQEKYN SWHHGDFNYE RQATLTISSA RVNDSGVFMC YANNTFGSAN
VTTTLEVVDK GFINIFPMIN TTVFVNDGEN VDLIVEYEAF PKPEHQQWIY MNRTFTDKWE
DYPKSENESN IRYVSELHLT RLKGTEGGTY TFLVSNSDVN AAIAFNVYVN TKPEILT*

Position of stopcodon in wt / mu CDS

2931 / 1254

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

977 / 418

Position of stopcodon in wt / mu cDNA

2989 / 1312

Position of start ATG in wt / mu cDNA

59 / 59

Last intron/exon boundary

2860

Theoretical NMD boundary in CDS

2751

Length of CDS

2931

Coding sequence (CDS) position

1254

cDNA position

1312

gDNA position

66340

Chromosomal position

54723606

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