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: ENST00000482457
MT speed 0 s - this script 2.424222 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF80	polymorphism_automatic	9.31033028450656e-13	simple_aae		affected		D253A	single base exchange	rs3732782		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999069 (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)

chr3:113955164T>GN/A show variant in all transcripts IGV

HGNC symbol

ZNF80

Ensembl transcript ID

ENST00000482457

Genbank transcript ID

NM_007136

UniProt peptide

P51504

alteration type

single base exchange

alteration region

CDS

DNA changes

c.758A>C
cDNA.1262A>C
g.1262A>C

AA changes

D253A Score: 126 explain score(s)

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

253

frameshift

known variant

Reference ID: rs3732782

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	26313	-19859	6454

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.25	0.097
	0.083	0.084
(flanking)	-0.176	0.088

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 marginally increased	1254	wt: 0.8897 / mu: 0.9303 (marginal change - not scored)	wt: GAACATAGAAAGGAC mu: GAACATAGAAAGGCC	ACAT\|agaa
Donor marginally increased	1255	wt: 0.9746 / mu: 0.9906 (marginal change - not scored)	wt: AACATAGAAAGGACT mu: AACATAGAAAGGCCT	CATA\|gaaa
Donor increased	1253	wt: 0.21 / mu: 0.36	wt: TGAACATAGAAAGGA mu: TGAACATAGAAAGGC	AACA\|taga

distance from splice site

1262

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

253

mutated

not conserved

253

Ptroglodytes

not conserved

ENSPTRG00000042054

253

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

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

822 / 822

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

274 / 274

position of stopcodon in wt / mu cDNA

1326 / 1326

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

505 / 505

chromosome

strand

-1

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

822

coding sequence (CDS) position

758

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

1262

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

1262

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

113955164

original gDNA sequence snippet

GTGCCTTGAACATAGAAAGGACTTTGGCTACCACTCTGCTT

altered gDNA sequence snippet

GTGCCTTGAACATAGAAAGGCCTTTGGCTACCACTCTGCTT

original cDNA sequence snippet

GTGCCTTGAACATAGAAAGGACTTTGGCTACCACTCTGCTT

altered cDNA sequence snippet

GTGCCTTGAACATAGAAAGGCCTTTGGCTACCACTCTGCTT

wildtype AA sequence

MSPKRDGLGT GDGLHSQVLQ EQVSTGDNLH ECDSQGPSKD TLVREGKTYK CKECGSVFNK
NSLLVRHQQI HTGVKPYECQ ECGKAFPEKV DFVRPMRIHT GEKPCKCVEC GKVFNRRSHL
LCYRQIHTGE KPYECSECGK TFSYHSVFIQ HRVTHTGEKL FGCKECGKTF YYNSSLTRHM
KIHTGEKPCK CSECGKTFTY RSVFFRHSMT HTAGKPYECK ECGKGFYYSY SLTRHTRSHT
GEKPYECLEH RKDFGYHSAF AQQSKIHSGG KNL*

mutated AA sequence

speed

0.41 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