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: ENST00000315475
MT speed 0 s - this script 2.603125 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF354C	polymorphism_automatic	5.99520433297585e-15	simple_aae		affected		F546L	single base exchange	rs1445846		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999994 (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)

chr5:178507069T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF354C

Ensembl transcript ID

ENST00000315475

Genbank transcript ID

NM_014594

UniProt peptide

Q86Y25

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1636T>C
cDNA.1942T>C
g.19654T>C

AA changes

F546L Score: 22 explain score(s)

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

546

frameshift

known variant

Reference ID: rs1445846

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1525	836	2361
ExAC	31230	-29693	1537

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.293	0.001
	0.22	0
(flanking)	0.049	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 marginally increased	19646	wt: 0.6604 / mu: 0.7216 (marginal change - not scored)	wt: CTCCTCACTTACCCAGTATCAGAGATTTTTTAAAGGAGATA mu: CTCCTCACTTACCCAGTATCAGAGATTTCTTAAAGGAGATA	atca\|GAGA
Donor increased	19646	wt: 0.85 / mu: 0.97	wt: GTATCAGAGATTTTT mu: GTATCAGAGATTTCT	ATCA\|gaga
Donor increased	19659	wt: 0.31 / mu: 0.36	wt: TTTAAAGGAGATAAA mu: CTTAAAGGAGATAAA	TAAA\|ggag

distance from splice site

1386

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

546

mutated

not conserved

546

Ptroglodytes

not conserved

ENSPTRG00000017613

546

Mmulatta

not conserved

ENSMMUG00000002485

546

Fcatus

not conserved

ENSFCAG00000009687

546

Mmusculus

not conserved

ENSMUSG00000044807

548

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

1665 / 1665

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

555 / 555

position of stopcodon in wt / mu cDNA

1971 / 1971

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

307 / 307

chromosome

strand

last intron/exon boundary

557

theoretical NMD boundary in CDS

200

length of CDS

1665

coding sequence (CDS) position

1636

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

1942

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

19654

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

178507069

original gDNA sequence snippet

TTACCCAGTATCAGAGATTTTTTAAAGGAGATAAAGCCTAT

altered gDNA sequence snippet

TTACCCAGTATCAGAGATTTCTTAAAGGAGATAAAGCCTAT

original cDNA sequence snippet

TTACCCAGTATCAGAGATTTTTTAAAGGAGATAAAGCCTAT

altered cDNA sequence snippet

TTACCCAGTATCAGAGATTTCTTAAAGGAGATAAAGCCTAT

wildtype AA sequence

MAVDLLSAQE PVTFRDVAVF FSQDEWLHLD SAQRALYREV MLENYSSLVS LGIPFSMPKL
IHQLQQGEDP CMVEREVPSD TRLGFKTWLE TEALPHRQDI FIEETSQGMV KKESIKDGHW
DINFEEAVEF ESEIEEEQEK KPLRQMIDSH EKTISEDGNH TSLELGKSLF TNTALVTQQS
VPIERIPNMY YTFGKDFKQN FDLMKCFQIY PGGKPHICNE CGKSFKQNLH LIEHQRIHTG
EKPYKCNECE KTFSHRSSLL SHQRIHTGEK PYKCNECEKA FSNSSTLIKH LRVHTGEKPY
RCRECGKAFS QCSTLTVHQR IHTGEKLYKC GECEKAFNCR AKLHRHQRIH TGEKPYKCSE
CGKGYSQFTS LAEHQRFHTG EQLYTCLECG RTFTRIVTLI EHQRIHTGQK PYQCNECEKA
FNQYSSFNEH RKIHTGEKLY TCEECGKAFG CKSNLYRHQR IHTGEKPYQC NQCGKAFSQY
SFLTEHERIH TGEKLYKCME CGKAYSYRSN LCRHKKVHTK EKLYKWKEYG KPFICSSSLT
QYQRFFKGDK AYEV*

mutated AA sequence

speed

0.59 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