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: ENST00000263035
MT speed 0 s - this script 2.67775 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DHTKD1	polymorphism_automatic	0.820482164008551	simple_aae		affected		Y272D	single base exchange	rs3740015		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.179517835991449 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:12131081T>GN/A show variant in all transcripts IGV

HGNC symbol

DHTKD1

Ensembl transcript ID

ENST00000263035

Genbank transcript ID

NM_018706

UniProt peptide

Q96HY7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.814T>G
cDNA.876T>G
g.20111T>G

AA changes

Y272D Score: 160 explain score(s)

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

272

frameshift

known variant

Reference ID: rs3740015

database	homozygous (G/G)	heterozygous	allele carriers
1000G	687	1052	1739
ExAC	20034	-7301	12733

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.091	1
	3.27	1
(flanking)	4.998	1

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	20103	wt: 0.56 / mu: 0.71	wt: GTCTCACCTGACCTCCTCTGTGGACCTGTACTTTGGGGCGC mu: GTCTCACCTGACCTCCTCTGTGGACCTGGACTTTGGGGCGC	ctgt\|GGAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

272

mutated

not conserved

272

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000012864

n/a

Mmusculus

not conserved

ENSMUSG00000025815

273

Ggallus

not conserved

ENSGALG00000003674

280

Trubripes

not conserved

ENSTRUG00000016922

283

Drerio

not conserved

ENSDARG00000016415

278

Dmelanogaster

not conserved

FBgn0039827

274

Celegans

all identical

ZK836.2

262

Xtropicalis

not conserved

ENSXETG00000021954

277

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2760 / 2760

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

920 / 920

position of stopcodon in wt / mu cDNA

2822 / 2822

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

63 / 63

chromosome

strand

last intron/exon boundary

2721

theoretical NMD boundary in CDS

2608

length of CDS

2760

coding sequence (CDS) position

814

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

876

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

20111

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

12131081

original gDNA sequence snippet

TGACCTCCTCTGTGGACCTGTACTTTGGGGCGCACCATCCC

altered gDNA sequence snippet

TGACCTCCTCTGTGGACCTGGACTTTGGGGCGCACCATCCC

original cDNA sequence snippet

TGACCTCCTCTGTGGACCTGTACTTTGGGGCGCACCATCCC

altered cDNA sequence snippet

TGACCTCCTCTGTGGACCTGGACTTTGGGGCGCACCATCCC

wildtype AA sequence

MASATAAAAR RGLGRALPLF WRGYQTERGV YGYRPRKPES REPQGALERP PVDHGLARLV
TVYCEHGHKA AKINPLFTGQ ALLENVPEIQ ALVQTLQGPF HTAGLLNMGK EEASLEEVLV
YLNQIYCGQI SIETSQLQSQ DEKDWFAKRF EELQKETFTT EERKHLSKLM LESQEFDHFL
ATKFSTVKRY GGEGAESMMG FFHELLKMSA YSGITDVIIG MPHRGRLNLL TGLLQFPPEL
MFRKMRGLSE FPENFSATGD VLSHLTSSVD LYFGAHHPLH VTMLPNPSHL EAVNPVAVGK
TRGRQQSRQD GDYSPDNSAQ PGDRVICLQV HGDASFCGQG IVPETFTLSN LPHFRIGGSV
HLIVNNQLGY TTPAERGRSS LYCSDIGKLV GCAIIHVNGD SPEEVVRATR LAFEYQRQFR
KDVIIDLLCY RQWGHNELDE PFYTNPIMYK IIRARKSIPD TYAEHLIAGG LMTQEEVSEI
KSSYYAKLND HLNNMAHYRP PALNLQAHWQ GLAQPEAQIT TWSTGVPLDL LRFVGMKSVE
VPRELQMHSH LLKTHVQSRM EKMMDGIKLD WATAEALALG SLLAQGFNVR LSGQDVGRGT
FSQRHAIVVC QETDDTYIPL NHMDPNQKGF LEVSNSPLSE EAVLGFEYGM SIESPKLLPL
WEAQFGDFFN GAQIIFDTFI SGGEAKWLLQ SGIVILLPHG YDGAGPDHSS CRIERFLQMC
DSAEEGVDGD TVNMFVVHPT TPAQYFHLLR RQMVRNFRKP LIVASPKMLL RLPAAVSTLQ
EMAPGTTFNP VIGDSSVDPK KVKTLVFCSG KHFYSLVKQR ESLGAKKHDF AIIRVEELCP
FPLDSLQQEM SKYKHVKDHI WSQEEPQNMG PWSFVSPRFE KQLACKLRLV GRPPLPVPAV
GIGTVHLHQH EDILAKTFA*

mutated AA sequence

MASATAAAAR RGLGRALPLF WRGYQTERGV YGYRPRKPES REPQGALERP PVDHGLARLV
TVYCEHGHKA AKINPLFTGQ ALLENVPEIQ ALVQTLQGPF HTAGLLNMGK EEASLEEVLV
YLNQIYCGQI SIETSQLQSQ DEKDWFAKRF EELQKETFTT EERKHLSKLM LESQEFDHFL
ATKFSTVKRY GGEGAESMMG FFHELLKMSA YSGITDVIIG MPHRGRLNLL TGLLQFPPEL
MFRKMRGLSE FPENFSATGD VLSHLTSSVD LDFGAHHPLH VTMLPNPSHL EAVNPVAVGK
TRGRQQSRQD GDYSPDNSAQ PGDRVICLQV HGDASFCGQG IVPETFTLSN LPHFRIGGSV
HLIVNNQLGY TTPAERGRSS LYCSDIGKLV GCAIIHVNGD SPEEVVRATR LAFEYQRQFR
KDVIIDLLCY RQWGHNELDE PFYTNPIMYK IIRARKSIPD TYAEHLIAGG LMTQEEVSEI
KSSYYAKLND HLNNMAHYRP PALNLQAHWQ GLAQPEAQIT TWSTGVPLDL LRFVGMKSVE
VPRELQMHSH LLKTHVQSRM EKMMDGIKLD WATAEALALG SLLAQGFNVR LSGQDVGRGT
FSQRHAIVVC QETDDTYIPL NHMDPNQKGF LEVSNSPLSE EAVLGFEYGM SIESPKLLPL
WEAQFGDFFN GAQIIFDTFI SGGEAKWLLQ SGIVILLPHG YDGAGPDHSS CRIERFLQMC
DSAEEGVDGD TVNMFVVHPT TPAQYFHLLR RQMVRNFRKP LIVASPKMLL RLPAAVSTLQ
EMAPGTTFNP VIGDSSVDPK KVKTLVFCSG KHFYSLVKQR ESLGAKKHDF AIIRVEELCP
FPLDSLQQEM SKYKHVKDHI WSQEEPQNMG PWSFVSPRFE KQLACKLRLV GRPPLPVPAV
GIGTVHLHQH EDILAKTFA*

speed

0.62 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