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: ENST00000305570
MT speed 0 s - this script 2.882512 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF626	polymorphism_automatic	1.1489031948031e-11	simple_aae				C464Y	single base exchange	rs4809072		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999988511 (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)

chr19:20807292C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF626

Ensembl transcript ID

ENST00000305570

Genbank transcript ID

N/A

UniProt peptide

Q68DY1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1391G>A
cDNA.1391G>A
g.37111G>A

AA changes

C464Y Score: 194 explain score(s)

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

464

frameshift

known variant

Reference ID: rs4809072

database	homozygous (T/T)	heterozygous	allele carriers
1000G	608	1022	1630
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.734	0
	-0.124	0
(flanking)	0.763	0.001

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 marginally increased	37119	wt: 0.2673 / mu: 0.2885 (marginal change - not scored)	wt: AAGCTTTTAAGTGCTCCTCTAACCTTACTACACATAAGAAA mu: AAGCTTTTAAGTACTCCTCTAACCTTACTACACATAAGAAA	tcta\|ACCT

distance from splice site

197

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

464

mutated

not conserved

464

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000022527

460

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000069184

394

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
453	475	ZN_FING	C2H2-type 11.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1587 / 1587

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

529 / 529

position of stopcodon in wt / mu cDNA

1587 / 1587

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

227

theoretical NMD boundary in CDS

176

length of CDS

1587

coding sequence (CDS) position

1391

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

1391

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

37111

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

20807292

original gDNA sequence snippet

ATGTGGCAAAGCTTTTAAGTGCTCCTCTAACCTTACTACAC

altered gDNA sequence snippet

ATGTGGCAAAGCTTTTAAGTACTCCTCTAACCTTACTACAC

original cDNA sequence snippet

ATGTGGCAAAGCTTTTAAGTGCTCCTCTAACCTTACTACAC

altered cDNA sequence snippet

ATGTGGCAAAGCTTTTAAGTACTCCTCTAACCTTACTACAC

wildtype AA sequence

MGPLQFRDVA IEFSLEEWHC LDTAQRNLYR NVMLENYSNL VFLGITVSKP DLITCLEQGR
KPLTMKRNEM IAKPSVMCSH FAQDLWPEQS MKDSFQKVVL RRYEKCEHDN LQLKKGCISV
DECKVHKEGY NELNQCLTTT PRKICQCDKY VKVLHQFPNS NGQKRGHTGK KPFKYIECGK
AFKQFSTLTT HKKIHTGGKP YKCEECGKAF NHSCSLTRHK KIHTGEKPYK CEECGKAFKH
SSTLTTHKRN HTGEKPYKCD KCGKAFMSSS TLSKHEIIHT EKKPYKCEEC GKAFNRSSTL
TTHKIIHTGE KPYKCEECDK AFKYSYTLTT HKRIHTEDKP YKCEECGKAF KYSSTLTTHK
RIHTGEKPYK CEECGKAFKR SSDLTTHKII HTGEKPYKCE ECGKAFKYSS NLTTHKKIHT
GERPYKCEEC GKAFNQSSIL TTHRRIHTGE KFYKCEECGK AFKCSSNLTT HKKIHTGERP
YKCEECGKAF NQSSILTTHE RIILERNSTN VKNVAKPSSG PHTLLHIR*

mutated AA sequence

MGPLQFRDVA IEFSLEEWHC LDTAQRNLYR NVMLENYSNL VFLGITVSKP DLITCLEQGR
KPLTMKRNEM IAKPSVMCSH FAQDLWPEQS MKDSFQKVVL RRYEKCEHDN LQLKKGCISV
DECKVHKEGY NELNQCLTTT PRKICQCDKY VKVLHQFPNS NGQKRGHTGK KPFKYIECGK
AFKQFSTLTT HKKIHTGGKP YKCEECGKAF NHSCSLTRHK KIHTGEKPYK CEECGKAFKH
SSTLTTHKRN HTGEKPYKCD KCGKAFMSSS TLSKHEIIHT EKKPYKCEEC GKAFNRSSTL
TTHKIIHTGE KPYKCEECDK AFKYSYTLTT HKRIHTEDKP YKCEECGKAF KYSSTLTTHK
RIHTGEKPYK CEECGKAFKR SSDLTTHKII HTGEKPYKCE ECGKAFKYSS NLTTHKKIHT
GERPYKCEEC GKAFNQSSIL TTHRRIHTGE KFYKCEECGK AFKYSSNLTT HKKIHTGERP
YKCEECGKAF NQSSILTTHE RIILERNSTN VKNVAKPSSG PHTLLHIR*

speed

0.87 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