MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000397104
MT speed 0 s - this script 2.874412 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF99	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		A150G	single base exchange	rs7255780		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr19:22942325G>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF99

Ensembl transcript ID

ENST00000397104

Genbank transcript ID

N/A

UniProt peptide

Q8WTZ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.449C>G
cDNA.449C>G
g.10460C>G

AA changes

A150G Score: 60 explain score(s)

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

150

frameshift

known variant

Reference ID: rs7255780

database	homozygous (C/C)	heterozygous	allele carriers
1000G	364	1112	1476
ExAC	6256	20255	26511

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.059	0
	-1.382	0
(flanking)	-0.957	0

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 increased	10465	wt: 0.24 / mu: 0.34	wt: CTTATAATAAACTTA mu: GTTATAATAAACTTA	TATA\|ataa
Donor gained	10454	0.71	mu: GCACGAAGAAGGTTA	ACGA\|agaa

distance from splice site

107

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

150

mutated

not conserved

150

Ptroglodytes

not conserved

ENSPTRG00000029372

150

Mmulatta

all conserved

ENSMMUG00000011275

118

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021510

112

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

3114 / 3114

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

1038 / 1038

position of stopcodon in wt / mu cDNA

3114 / 3114

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

-1

last intron/exon boundary

2933

theoretical NMD boundary in CDS

2882

length of CDS

3114

coding sequence (CDS) position

449

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

449

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

10460

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

22942325

original gDNA sequence snippet

GGGTAAGATGCACGAAGAAGCTTATAATAAACTTAACCAAT

altered gDNA sequence snippet

GGGTAAGATGCACGAAGAAGGTTATAATAAACTTAACCAAT

original cDNA sequence snippet

GGGTAAGATGCACGAAGAAGCTTATAATAAACTTAACCAAT

altered cDNA sequence snippet

GGGTAAGATGCACGAAGAAGGTTATAATAAACTTAACCAAT

wildtype AA sequence

MSFWSEKCTR LILYDLKIAL KNGSLTFWDV TIEFALEEWQ CLDMAQQNLY RNVMLENYRN
LVFLGIAVSK LDLITCLKQG KEPWNMKRHE MVTKPPVISS HFTQDFWPDQ SIKDSFQEII
LRTYARCGHK NLRLRKDCES VNEGKMHEEA YNKLNQCWTT TQGKIFQCNK YVKVFHKYSN
SNRYKIIHTG KKPYKCEECG KAFKQSSHLT RHKAIHTGEK PYKCEECGKA FNHFSALRKH
QIIHTGKKPY KCEECGKAFS QSSTLRKHEI IHTEEKPYKY EECGKAFSNL SALRKHEIIH
TGQKPYKCEE CGKAFKWSSK LTVHKVIHTA EKPCKCEECG KAFKRFSALR KHKIIHTGKQ
PYKCEECSKA FSNFSALRKH EIIHTGEKPY KCEECGKAFK WSSKLTVHKV IHMEEKPCKC
EECGKAFKHF SALRKHKIIH TGKKPYKCEE CGKAFNNSST LMKHKIIHTG KKPYKCEECG
KAFKQSSHLT RHKAIHTGEK PYKCEECGKA FNHFSALRKH QIIHTGKKPY KCEECGKAFS
QSSTLRKHEI IHTGEKPYKC EECGKAFKWS SHLTRHKVIH TEEKPYKCEE CGKAFNHFSA
LRKHKIIHTG KKPYKCEECG KAFSQSSTLR KHEIIHTGEK PYKCEECGKA FKWSSKLTVH
KVIHTAEKPC KCEECGKAFK HFSALRKHKI IHTGKKPYKC EECGKAFNNS STLRKHEIIH
TGEKSYKCEE CALRKHEIIH TGKKPYKCEE CGKAFNNSST LRKHKIIYTG KKPYKCEECG
KAFKQSSHLT RHKAVHTGEK PYKCGECGKA FNNSSTLKKH KLIHTREKSY KCEECGKAFS
NFSALRKHKI IHTGEKPYKC EECECGKAFN NSSTLMKHKI IHTGEKPYKC EECGKGFNNF
STLMKHKIIH TGEKPYKCEE CGKAFKQSSH LTKHKSIHTG EKPYKCEERG KAFSHFSRLT
KHRIIHTGKK PYKCEECGEK PYKCEECGKA FNQSSHLTQH KTIHTGGKTY KCEECGKAFN
HLSALTKHKI IHTGEKP*

mutated AA sequence

MSFWSEKCTR LILYDLKIAL KNGSLTFWDV TIEFALEEWQ CLDMAQQNLY RNVMLENYRN
LVFLGIAVSK LDLITCLKQG KEPWNMKRHE MVTKPPVISS HFTQDFWPDQ SIKDSFQEII
LRTYARCGHK NLRLRKDCES VNEGKMHEEG YNKLNQCWTT TQGKIFQCNK YVKVFHKYSN
SNRYKIIHTG KKPYKCEECG KAFKQSSHLT RHKAIHTGEK PYKCEECGKA FNHFSALRKH
QIIHTGKKPY KCEECGKAFS QSSTLRKHEI IHTEEKPYKY EECGKAFSNL SALRKHEIIH
TGQKPYKCEE CGKAFKWSSK LTVHKVIHTA EKPCKCEECG KAFKRFSALR KHKIIHTGKQ
PYKCEECSKA FSNFSALRKH EIIHTGEKPY KCEECGKAFK WSSKLTVHKV IHMEEKPCKC
EECGKAFKHF SALRKHKIIH TGKKPYKCEE CGKAFNNSST LMKHKIIHTG KKPYKCEECG
KAFKQSSHLT RHKAIHTGEK PYKCEECGKA FNHFSALRKH QIIHTGKKPY KCEECGKAFS
QSSTLRKHEI IHTGEKPYKC EECGKAFKWS SHLTRHKVIH TEEKPYKCEE CGKAFNHFSA
LRKHKIIHTG KKPYKCEECG KAFSQSSTLR KHEIIHTGEK PYKCEECGKA FKWSSKLTVH
KVIHTAEKPC KCEECGKAFK HFSALRKHKI IHTGKKPYKC EECGKAFNNS STLRKHEIIH
TGEKSYKCEE CALRKHEIIH TGKKPYKCEE CGKAFNNSST LRKHKIIYTG KKPYKCEECG
KAFKQSSHLT RHKAVHTGEK PYKCGECGKA FNNSSTLKKH KLIHTREKSY KCEECGKAFS
NFSALRKHKI IHTGEKPYKC EECECGKAFN NSSTLMKHKI IHTGEKPYKC EECGKGFNNF
STLMKHKIIH TGEKPYKCEE CGKAFKQSSH LTKHKSIHTG EKPYKCEERG KAFSHFSRLT
KHRIIHTGKK PYKCEECGEK PYKCEECGKA FNQSSHLTQH KTIHTGGKTY KCEECGKAFN
HLSALTKHKI IHTGEKP*

speed

0.82 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