MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000359236
MT speed 0 s - this script 2.379837 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
VSIG10	polymorphism_automatic	0.000358163071912054	simple_aae		affected		H435Y	single base exchange	rs7307331		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999641836928088 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:118509191G>AN/A show variant in all transcripts IGV

HGNC symbol

VSIG10

Ensembl transcript ID

ENST00000359236

Genbank transcript ID

NM_019086

UniProt peptide

Q8N0Z9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1303C>T
cDNA.1580C>T
g.64641C>T

AA changes

H435Y Score: 83 explain score(s)

position(s) of altered AA
if AA alteration in CDS

435

frameshift

known variant

Reference ID: rs7307331

database	homozygous (A/A)	heterozygous	allele carriers
1000G	874	966	1840
ExAC	10420	11927	22347

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.012	0.999
	2.092	0.999
(flanking)	0.639	0.99

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	64645	wt: 0.29 / mu: 0.58	wt: CTCAGGGCTTCTGTTGCATTATAGCCCTGTGTTCTGCTGGA mu: CTCAGGGCTTCTGTTGTATTATAGCCCTGTGTTCTGCTGGA	atta\|TAGC
Acc marginally increased	64648	wt: 0.5081 / mu: 0.5581 (marginal change - not scored)	wt: AGGGCTTCTGTTGCATTATAGCCCTGTGTTCTGCTGGAAAG mu: AGGGCTTCTGTTGTATTATAGCCCTGTGTTCTGCTGGAAAG	atag\|CCCT
Acc increased	64652	wt: 0.26 / mu: 0.40	wt: CTTCTGTTGCATTATAGCCCTGTGTTCTGCTGGAAAGGTAA mu: CTTCTGTTGTATTATAGCCCTGTGTTCTGCTGGAAAGGTAA	ccct\|GTGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

435

mutated

all conserved

435

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000030865

n/a

Fcatus

all conserved

ENSFCAG00000002276

407

Mmusculus

all conserved

ENSMUSG00000066894

451

Ggallus

all conserved

ENSGALG00000023273

422

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000058605

435

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000022373

326

protein features

start (aa)	end (aa)	feature	details
435	540	TOPO_DOM	Cytoplasmic (Potential).	lost
463	493	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1623 / 1623

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

541 / 541

position of stopcodon in wt / mu cDNA

1900 / 1900

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

278 / 278

chromosome

strand

-1

last intron/exon boundary

1845

theoretical NMD boundary in CDS

1517

length of CDS

1623

coding sequence (CDS) position

1303

cDNA position
(for ins/del: last normal base / first normal base)

1580

gDNA position
(for ins/del: last normal base / first normal base)

64641

chromosomal position
(for ins/del: last normal base / first normal base)

118509191

original gDNA sequence snippet

TTATCTCAGGGCTTCTGTTGCATTATAGCCCTGTGTTCTGC

altered gDNA sequence snippet

TTATCTCAGGGCTTCTGTTGTATTATAGCCCTGTGTTCTGC

original cDNA sequence snippet

TTATCTCAGGGCTTCTGTTGCATTATAGCCCTGTGTTCTGC

altered cDNA sequence snippet

TTATCTCAGGGCTTCTGTTGTATTATAGCCCTGTGTTCTGC

wildtype AA sequence

MAAGGSAPEP RVLVCLGALL AGWVAVGLEA VVIGEVHENV TLHCGNISGL RGQVTWYRNN
SEPVFLLSSN SSLRPAEPRF SLVDATSLHI ESLSLGDEGI YTCQEILNVT QWFQVWLQVA
SGPYQIEVHI VATGTLPNGT LYAARGSQVD FSCNSSSRPP PVVEWWFQAL NSSSESFGHN
LTVNFFSLLL ISPNLQGNYT CLALNQLSKR HRKVTTELLV YYPPPSAPQC WAQMASGSFM
LQLTCRWDGG YPDPDFLWIE EPGGVIVGKS KLGVEMLSES QLSDGKKFKC VTSHIVGPES
GASCMVQIRG PSLLSEPMKT CFTGGNVTLT CQVSGAYPPA KILWLRNLTQ PEVIIQPSSR
HLITQDGQNS TLTIHNCSQD LDEGYYICRA DSPVGVREME IWLSVKEPLN IGGIVGTIVS
LLLLGLAIIS GLLLHYSPVF CWKVGNTSRG QNMDDVMVLV DSEEEEEEEE EEEEDAAVGE
QEGAREREEL PKEIPKQDHI HRVTALVNGN IEQMGNGFQD LQDDSSEEQS DIVQEEDRPV
*

mutated AA sequence

MAAGGSAPEP RVLVCLGALL AGWVAVGLEA VVIGEVHENV TLHCGNISGL RGQVTWYRNN
SEPVFLLSSN SSLRPAEPRF SLVDATSLHI ESLSLGDEGI YTCQEILNVT QWFQVWLQVA
SGPYQIEVHI VATGTLPNGT LYAARGSQVD FSCNSSSRPP PVVEWWFQAL NSSSESFGHN
LTVNFFSLLL ISPNLQGNYT CLALNQLSKR HRKVTTELLV YYPPPSAPQC WAQMASGSFM
LQLTCRWDGG YPDPDFLWIE EPGGVIVGKS KLGVEMLSES QLSDGKKFKC VTSHIVGPES
GASCMVQIRG PSLLSEPMKT CFTGGNVTLT CQVSGAYPPA KILWLRNLTQ PEVIIQPSSR
HLITQDGQNS TLTIHNCSQD LDEGYYICRA DSPVGVREME IWLSVKEPLN IGGIVGTIVS
LLLLGLAIIS GLLLYYSPVF CWKVGNTSRG QNMDDVMVLV DSEEEEEEEE EEEEDAAVGE
QEGAREREEL PKEIPKQDHI HRVTALVNGN IEQMGNGFQD LQDDSSEEQS DIVQEEDRPV
*

speed

0.32 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems