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 2.840364 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF99	polymorphism_automatic	4.9960036108132e-15	simple_aae		affected		R762M	single base exchange	rs35012661		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999995 (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)

chr19:22940046C>AN/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.2285G>T
cDNA.2285G>T
g.12739G>T

AA changes

R762M Score: 91 explain score(s)

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

762

frameshift

known variant

Reference ID: rs35012661

database	homozygous (A/A)	heterozygous	allele carriers
1000G	157	775	932
ExAC	1589	14197	15786

regulatory features

H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.58	0
	-3.249	0
(flanking)	-2.024	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
Acc gained	12741	0.67	mu: ACAATTCCTCAACCCTTATGAAACATAAGATAATTTATACT	atga\|AACA
Donor gained	12734	0.41	mu: TCAACCCTTATGAAA	AACC\|ctta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

762

mutated

not conserved

762

Ptroglodytes

not conserved

ENSPTRG00000029372

734

Mmulatta

not conserved

ENSMMUG00000011275

647

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021510

743

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

2285

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

2285

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

12739

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

22940046

original gDNA sequence snippet

TAACAATTCCTCAACCCTTAGGAAACATAAGATAATTTATA

altered gDNA sequence snippet

TAACAATTCCTCAACCCTTATGAAACATAAGATAATTTATA

original cDNA sequence snippet

TAACAATTCCTCAACCCTTAGGAAACATAAGATAATTTATA

altered cDNA sequence snippet

TAACAATTCCTCAACCCTTATGAAACATAAGATAATTTATA

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 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 LMKHKIIYTG 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

0.78 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