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: ENST00000301547
MT speed 0 s - this script 2.644076 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF443	polymorphism_automatic	4.76415387296036e-06	simple_aae		affected		Q397H	single base exchange	rs35699767		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999995235846127 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:12541795C>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF443

Ensembl transcript ID

ENST00000301547

Genbank transcript ID

NM_005815

UniProt peptide

Q9Y2A4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1191G>T
cDNA.1389G>T
g.10132G>T

AA changes

Q397H Score: 24 explain score(s)

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

397

frameshift

known variant

Reference ID: rs35699767

database	homozygous (A/A)	heterozygous	allele carriers
1000G	378	1202	1580
ExAC	6648	19471	26119

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.094	0.976
	-1.178	0.018
(flanking)	0.82	0.014

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	10123	wt: 0.9201 / mu: 0.9320 (marginal change - not scored)	wt: TATGAATGCAAGCAG mu: TATGAATGCAAGCAT	TGAA\|tgca
Donor marginally increased	10136	wt: 0.9776 / mu: 0.9927 (marginal change - not scored)	wt: AGTGTGGGAAAGCAT mu: ATTGTGGGAAAGCAT	TGTG\|ggaa
Donor increased	10135	wt: 0.44 / mu: 0.77	wt: CAGTGTGGGAAAGCA mu: CATTGTGGGAAAGCA	GTGT\|ggga

distance from splice site

1000

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

397

mutated

not conserved

397

Ptroglodytes

all identical

ENSPTRG00000029117

396

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000012187

395

Mmusculus

all identical

ENSMUSG00000054519

349

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
393	415	ZN_FING	C2H2-type 10.	lost
421	443	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
449	471	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)
477	498	ZN_FING	C2H2-type 13; degenerate.	might get lost (downstream of altered splice site)
480	480	CONFLICT	K -> T (in Ref. 1; BAA75543 and 3; AAH32753).	might get lost (downstream of altered splice site)
504	526	ZN_FING	C2H2-type 14.	might get lost (downstream of altered splice site)
532	554	ZN_FING	C2H2-type 15.	might get lost (downstream of altered splice site)
560	582	ZN_FING	C2H2-type 16.	might get lost (downstream of altered splice site)
588	610	ZN_FING	C2H2-type 17.	might get lost (downstream of altered splice site)
616	638	ZN_FING	C2H2-type 18.	might get lost (downstream of altered splice site)
649	671	ZN_FING	C2H2-type 19.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2016 / 2016

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

672 / 672

position of stopcodon in wt / mu cDNA

2214 / 2214

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

199 / 199

chromosome

strand

-1

last intron/exon boundary

390

theoretical NMD boundary in CDS

141

length of CDS

2016

coding sequence (CDS) position

1191

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

1389

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

10132

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

12541795

original gDNA sequence snippet

AAACCCTATGAATGCAAGCAGTGTGGGAAAGCATTATCTCA

altered gDNA sequence snippet

AAACCCTATGAATGCAAGCATTGTGGGAAAGCATTATCTCA

original cDNA sequence snippet

AAACCCTATGAATGCAAGCAGTGTGGGAAAGCATTATCTCA

altered cDNA sequence snippet

AAACCCTATGAATGCAAGCATTGTGGGAAAGCATTATCTCA

wildtype AA sequence

MASVALEDVA VNFTREEWAL LGPCQKNLYK DVMQETIRNL DCVVMKWKDQ NIEDQYRYPR
KNLRCRMLER FVESKDGTQC GETSSQIQDS IVTKNTLPGV GPCESSMRGE KVMGHSSLNC
YIRVGAGHKP HEYHECGEKP DTHKQRGKAF SYHNSFQTHE RLHTGKKPYD CKECGKSFSS
LGNLQRHMAV QRGDGPYKCK LCGKAFFWPS LLHMHERTHT GEKPYECKQC SKAFSFYSSY
LRHERTHTGE KPYECKQCSK AFPFYSSYLR HERTHTGEKP YKCKQCSKAF PDSSSCLIHE
RTHTGEKPYT CKQCGKAFSV SGSLQRHETT HSAEKPYACQ QCGKAFHHLG SFQRHMIRHT
GNGPHKCKIC GKGFDCPSSL QSHERTHTGE KPYECKQCGK ALSHRSSFRS HMIMHTGDGP
HKCKVCGKAF VYPSVFQRHE RTHTAEKPYK CKQCGKAYRI SSSLRRHETT HTGEKPYKCK
LGKACIDFCS FQNHKTTHTG EKPYECKECG KAFSRFRYLS RHKRTHTGEK PYECKTCRKA
FGHYDNLKVH ERIHSGEKPY ECKECGKAFS WLTCFLRHER IHMREKSYEC PQCGKAFTHS
RFLQGHEKTH TGENPYECKE CGKAFASLSS LHRHKKTHWK KTHTGENPYE CKECGKAFAS
LSSLHRHKKT H*

mutated AA sequence

MASVALEDVA VNFTREEWAL LGPCQKNLYK DVMQETIRNL DCVVMKWKDQ NIEDQYRYPR
KNLRCRMLER FVESKDGTQC GETSSQIQDS IVTKNTLPGV GPCESSMRGE KVMGHSSLNC
YIRVGAGHKP HEYHECGEKP DTHKQRGKAF SYHNSFQTHE RLHTGKKPYD CKECGKSFSS
LGNLQRHMAV QRGDGPYKCK LCGKAFFWPS LLHMHERTHT GEKPYECKQC SKAFSFYSSY
LRHERTHTGE KPYECKQCSK AFPFYSSYLR HERTHTGEKP YKCKQCSKAF PDSSSCLIHE
RTHTGEKPYT CKQCGKAFSV SGSLQRHETT HSAEKPYACQ QCGKAFHHLG SFQRHMIRHT
GNGPHKCKIC GKGFDCPSSL QSHERTHTGE KPYECKHCGK ALSHRSSFRS HMIMHTGDGP
HKCKVCGKAF VYPSVFQRHE RTHTAEKPYK CKQCGKAYRI SSSLRRHETT HTGEKPYKCK
LGKACIDFCS FQNHKTTHTG EKPYECKECG KAFSRFRYLS RHKRTHTGEK PYECKTCRKA
FGHYDNLKVH ERIHSGEKPY ECKECGKAFS WLTCFLRHER IHMREKSYEC PQCGKAFTHS
RFLQGHEKTH TGENPYECKE CGKAFASLSS LHRHKKTHWK KTHTGENPYE CKECGKAFAS
LSSLHRHKKT H*

speed

0.58 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