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: ENST00000433342
MT speed 0 s - this script 2.489908 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
C1orf167	polymorphism_automatic	2.71477196278624e-09	simple_aae		affected		W782R	single base exchange	rs6699881		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999997285228 (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)

chr1:11836628T>CN/A show variant in all transcripts IGV

HGNC symbol

C1orf167

Ensembl transcript ID

ENST00000433342

Genbank transcript ID

N/A

UniProt peptide

Q5SNV9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2344T>C
cDNA.2344T>C
g.14785T>C

AA changes

W782R Score: 101 explain score(s)

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

782

frameshift

known variant

Reference ID: rs6699881

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1274	958	2232
ExAC	2282	2131	4413

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.671	0.362
	0.067	0.094
(flanking)	0.065	0.046

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
Donor gained	14786	0.46	mu: CTGCCGGACACTGGC	GCCG\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

782

mutated

not conserved

782

Ptroglodytes

not conserved

ENSPTRG00000000152

407

Mmulatta

all identical

ENSMMUG00000020063

320

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
977	1136	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4422 / 4422

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

1474 / 1474

position of stopcodon in wt / mu cDNA

4422 / 4422

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

1 / 1

chromosome

strand

last intron/exon boundary

4246

theoretical NMD boundary in CDS

4195

length of CDS

4422

coding sequence (CDS) position

2344

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

2344

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

14785

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

11836628

original gDNA sequence snippet

GCTCCCTGCAGGATGCCTGCTGGACACTGGCCCTCTGCTGG

altered gDNA sequence snippet

GCTCCCTGCAGGATGCCTGCCGGACACTGGCCCTCTGCTGG

original cDNA sequence snippet

GCTCCCTGCAGGATGCCTGCTGGACACTGGCCCTCTGCTGG

altered cDNA sequence snippet

GCTCCCTGCAGGATGCCTGCCGGACACTGGCCCTCTGCTGG

wildtype AA sequence

MTRMSCPWGS YQWEPGACPA APRGIGGGDM AGGIPDVRGL QEAALGAGRS QEEARLVEEA
QTPVMLPQDS GQRVEEVPGD LMAKRMSLIL HVQKLPWDHV PCLRRTRQNL YQDVGGHAHG
SGLGGAKRGA ARSALRRPLP PATCRPAGIV SGPSPRLDSN PTGAHLIKQT RPLTVEWTKD
TPVPEPMELR SDASHKENVS PKPAALPKPG KRLKQRRFRR SLGIGLSGRH DQWVPGCQVE
RGGPAATPSP GAVLDQEPCR VQTNLASPGP RLGLALKDTT GQLVNSSFWQ QSNLQSLARR
RQGKAREFAI QQSNLSINET SSPHLCPEPG GSSGPHKLPW GPLLSQEPLA RPSSCLRQSG
LPAPGTPSGD FRPTEAFAPL DGHTQPGLRS WGGLGSWRSR LVGEPLTLED LAVPSQNQTQ
APSRAAVHQL LASVHCLAQE AARLRCQAPQ EPPAWGVSPK QKGEEGAPRE RVHREEERTA
FHLSDTVPAS SASKNKAQNI TAPESEAICW QLLSRCFRSW RHLVKRQREP AAAAVALGRW
QLLRKCLQAL WLREAQLEAA WGQYTKVLLV RSFREVSGLQ VGPGGRVKQC PGSLREEEIA
QRLLSHPRQR TDSRHERVQI LQALQLAVFF LWCQQKKRAR QERETLRKAT RATQRTGSFP
QAWHSTAAGV AWVAPLSPQH QRAWLCRCFG AWQQFVQRGS RYRDHLADRR TGTLRKCLEQ
WVRMKQLRES DGAKVTQLSL CRQKAGREAV YTAGPGACGL GAVGQAQGQQ EQGRGSLQDA
CWTLALCWAL LLWKMRLFQR QWANSFFQGL QQRMLQRSLR WWHLRALGPD ATSSCTKTPS
ALEPLSSSTL QDSLEKVPRA PTLPDTLQGS LLWAAGQRQQ GQCLLLWQAR AQQFQGTARW
YQHTRQRRIF LSWSRWATAQ WAWRELASHR AWDRTCRAVL GLWRQRLLQS RLVEWWAQER
GWRLARDALC HWHSCWQGQQ FLHEKCQTWV QVHLQGLQKV VFRSWQQAAA HQRCTVTRPE
QLLLQSYFQA WCEVVRDTGV LRAQHQAFQD GLRRRALGAV FATWREAQEV AAGAQEQRVA
QASLARWRSC GQQGQEDGQQ KKARAPQAFP AWPVAPGMHH EAQQQAGESA GAQAAQCWTW
CWALWVHESC RGQVSRAHAS WKPRAWVLEA SVQSAVRGGV QRAILTQLRP AELRRFLRTV
QLRVRLGLPG AGKTRSCWTQ ATELVPPAPS LQCSLGGRRK PRGTAWAQRC REHSLCPAFQ
LWPQWPGQSS WVPGLPLWTR DQGPRAHSSP EPRACKAQSK AHKRRLRARS CRILEKQAQA
HGSALLLALK GHDALGHQEE VPAAPVPRGT ASRAAGFPAG QVPGSGMAAL GGCPRGRAAG
ADPAQGVAPE MGLADVVAAD PATASGSAVT AAGRWAFKKW HQRLAARSPR RGAASSPRPW
SKPGPKGPES GQEAARAPRG WGLGAEHGAQ LQL*

mutated AA sequence

MTRMSCPWGS YQWEPGACPA APRGIGGGDM AGGIPDVRGL QEAALGAGRS QEEARLVEEA
QTPVMLPQDS GQRVEEVPGD LMAKRMSLIL HVQKLPWDHV PCLRRTRQNL YQDVGGHAHG
SGLGGAKRGA ARSALRRPLP PATCRPAGIV SGPSPRLDSN PTGAHLIKQT RPLTVEWTKD
TPVPEPMELR SDASHKENVS PKPAALPKPG KRLKQRRFRR SLGIGLSGRH DQWVPGCQVE
RGGPAATPSP GAVLDQEPCR VQTNLASPGP RLGLALKDTT GQLVNSSFWQ QSNLQSLARR
RQGKAREFAI QQSNLSINET SSPHLCPEPG GSSGPHKLPW GPLLSQEPLA RPSSCLRQSG
LPAPGTPSGD FRPTEAFAPL DGHTQPGLRS WGGLGSWRSR LVGEPLTLED LAVPSQNQTQ
APSRAAVHQL LASVHCLAQE AARLRCQAPQ EPPAWGVSPK QKGEEGAPRE RVHREEERTA
FHLSDTVPAS SASKNKAQNI TAPESEAICW QLLSRCFRSW RHLVKRQREP AAAAVALGRW
QLLRKCLQAL WLREAQLEAA WGQYTKVLLV RSFREVSGLQ VGPGGRVKQC PGSLREEEIA
QRLLSHPRQR TDSRHERVQI LQALQLAVFF LWCQQKKRAR QERETLRKAT RATQRTGSFP
QAWHSTAAGV AWVAPLSPQH QRAWLCRCFG AWQQFVQRGS RYRDHLADRR TGTLRKCLEQ
WVRMKQLRES DGAKVTQLSL CRQKAGREAV YTAGPGACGL GAVGQAQGQQ EQGRGSLQDA
CRTLALCWAL LLWKMRLFQR QWANSFFQGL QQRMLQRSLR WWHLRALGPD ATSSCTKTPS
ALEPLSSSTL QDSLEKVPRA PTLPDTLQGS LLWAAGQRQQ GQCLLLWQAR AQQFQGTARW
YQHTRQRRIF LSWSRWATAQ WAWRELASHR AWDRTCRAVL GLWRQRLLQS RLVEWWAQER
GWRLARDALC HWHSCWQGQQ FLHEKCQTWV QVHLQGLQKV VFRSWQQAAA HQRCTVTRPE
QLLLQSYFQA WCEVVRDTGV LRAQHQAFQD GLRRRALGAV FATWREAQEV AAGAQEQRVA
QASLARWRSC GQQGQEDGQQ KKARAPQAFP AWPVAPGMHH EAQQQAGESA GAQAAQCWTW
CWALWVHESC RGQVSRAHAS WKPRAWVLEA SVQSAVRGGV QRAILTQLRP AELRRFLRTV
QLRVRLGLPG AGKTRSCWTQ ATELVPPAPS LQCSLGGRRK PRGTAWAQRC REHSLCPAFQ
LWPQWPGQSS WVPGLPLWTR DQGPRAHSSP EPRACKAQSK AHKRRLRARS CRILEKQAQA
HGSALLLALK GHDALGHQEE VPAAPVPRGT ASRAAGFPAG QVPGSGMAAL GGCPRGRAAG
ADPAQGVAPE MGLADVVAAD PATASGSAVT AAGRWAFKKW HQRLAARSPR RGAASSPRPW
SKPGPKGPES GQEAARAPRG WGLGAEHGAQ LQL*

speed

0.43 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