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: ENST00000357774
MT speed 0 s - this script 2.458852 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF98	polymorphism_automatic	2.31109575921096e-11	simple_aae				K407E	single base exchange	rs201005223		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999976889 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:22574818T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF98

Ensembl transcript ID

ENST00000357774

Genbank transcript ID

NM_001098626

UniProt peptide

A6NK75

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1219A>G
cDNA.1341A>G
g.30331A>G

AA changes

K407E Score: 56 explain score(s)

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

407

frameshift

known variant

Reference ID: rs201005223

database	homozygous (C/C)	heterozygous	allele carriers
1000G	291	1125	1416
ExAC	2340	5875	8215

regulatory features

H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.324	0.043
	-1.52	0.015
(flanking)	-0.466	0.017

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

splice sites

no abrogation of potential splice sites

distance from splice site

920

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

407

mutated

all conserved

407

Ptroglodytes

all identical

ENSPTRG00000010765

403

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000069184

272

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
406	428	ZN_FING	C2H2-type 9.	lost
407	407	CONFLICT	K -> E (in Ref. 3; AAI10577/AAI29811).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1719 / 1719

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

573 / 573

position of stopcodon in wt / mu cDNA

1841 / 1841

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

123 / 123

chromosome

strand

-1

last intron/exon boundary

376

theoretical NMD boundary in CDS

203

length of CDS

1719

coding sequence (CDS) position

1219

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

1341

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

30331

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

22574818

original gDNA sequence snippet

ATGCTGGAGAGAAATTCTACAAATGTGAAGTATGTAGCAAA

altered gDNA sequence snippet

ATGCTGGAGAGAAATTCTACGAATGTGAAGTATGTAGCAAA

original cDNA sequence snippet

ATGCTGGAGAGAAATTCTACAAATGTGAAGTATGTAGCAAA

altered cDNA sequence snippet

ATGCTGGAGAGAAATTCTACGAATGTGAAGTATGTAGCAAA

wildtype AA sequence

MPGPLGSLEM GVLTFRDVAL EFSLEEWQCL DTAQQNLYRN VMLENYRNLV FVGIAASKPD
LITCLEQGKE PWNVKRHEMV TEPPVVYSYF AQDLWPKQGK KNYFQKVILR TYKKCGRENL
QLRKYCKSMD ECKVHKECYN GLNQCLTTTQ NKIFQYDKYV KVFHKFSNSN RHKIGHTGKK
SFKCKECEKS FCMLSHLAQH KRIHSGEKPY KCKECGKAYN EASNLSTHKR IHTGKKPYKC
EECGKAFNRL SHLTTHKIIH TGKKPYKCEE CGKAFNQSAN LTTHKRIHTG EKPYKCEECG
RAFSQSSTLT AHKIIHAGEK PYKCEECGKA FSQSSTLTTH KIIHTGEKFY KCEECGKAFS
RLSHLTTHKR IHSGEKPYKC EECGKAFKQS STLTTHKRIH AGEKFYKCEV CSKAFSRFSH
LTTHKRIHTG EKPYKCEECG KAFNLSSQLT THKIIHTGEK PYKCEECGKA FNQSSTLSKH
KVIHTGEKPY KCEECGKAFN QSSHLTTHKM IHTGEKPYKC EECGKAFNNS SILNRHKMIH
TGEKLYKPES CNNACDNIAK ISKYKRNCAG EK*

mutated AA sequence

MPGPLGSLEM GVLTFRDVAL EFSLEEWQCL DTAQQNLYRN VMLENYRNLV FVGIAASKPD
LITCLEQGKE PWNVKRHEMV TEPPVVYSYF AQDLWPKQGK KNYFQKVILR TYKKCGRENL
QLRKYCKSMD ECKVHKECYN GLNQCLTTTQ NKIFQYDKYV KVFHKFSNSN RHKIGHTGKK
SFKCKECEKS FCMLSHLAQH KRIHSGEKPY KCKECGKAYN EASNLSTHKR IHTGKKPYKC
EECGKAFNRL SHLTTHKIIH TGKKPYKCEE CGKAFNQSAN LTTHKRIHTG EKPYKCEECG
RAFSQSSTLT AHKIIHAGEK PYKCEECGKA FSQSSTLTTH KIIHTGEKFY KCEECGKAFS
RLSHLTTHKR IHSGEKPYKC EECGKAFKQS STLTTHKRIH AGEKFYECEV CSKAFSRFSH
LTTHKRIHTG EKPYKCEECG KAFNLSSQLT THKIIHTGEK PYKCEECGKA FNQSSTLSKH
KVIHTGEKPY KCEECGKAFN QSSHLTTHKM IHTGEKPYKC EECGKAFNNS SILNRHKMIH
TGEKLYKPES CNNACDNIAK ISKYKRNCAG EK*

speed

0.40 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