mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999866423 (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)

chr4:184203886G>CN/A show variant in all transcripts IGV

HGNC symbol

WWC2

Ensembl transcript ID

ENST00000508747

Genbank transcript ID

N/A

UniProt peptide

Q6AWC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.94G>C
cDNA.127G>C
g.183441G>C

AA changes

D32H Score: 81 explain score(s)

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

frameshift

known variant

Reference ID: rs3814422

database	homozygous (C/C)	heterozygous	allele carriers
1000G	179	913	1092
ExAC	2166	11368	13534

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.651	0
	0.273	0
(flanking)	0.564	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
Donor marginally increased	183442	wt: 0.2827 / mu: 0.3162 (marginal change - not scored)	wt: CTCTGATGAAATTGT mu: CTCTCATGAAATTGT	CTGA\|tgaa

distance from splice site

127

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000016626

902

Mmulatta

all conserved

ENSMMUG00000015748

699

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031563

904

Ggallus

all identical

ENSGALG00000010668

895

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0262127

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000025753

884

protein features

start (aa)	end (aa)	feature	details
10	43	DOMAIN	WW 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

963 / 963

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

321 / 321

position of stopcodon in wt / mu cDNA

996 / 996

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

34 / 34

chromosome

strand

last intron/exon boundary

930

theoretical NMD boundary in CDS

846

length of CDS

963

coding sequence (CDS) position

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

127

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

183441

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

184203886

original gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered gDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

original cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTGATGAAATTGTGGCTGAAAAA

altered cDNA sequence snippet

CAATGCTAAGAGAGGCCTCTCATGAAATTGTGGCTGAAAAA

wildtype AA sequence

MPRLRVHGAC LPTKSVLFLF YHRLTMLREA SDEIVAEKEA EVKLPEDSSC TEDLSSCTSV
PEMNEDGNRK ESNCAKDLRS QPPTRIPTLV DKETNTDEAA NDNMAVRPKE RSSLSSRQHP
FVRSSVIVRS QTFSPGERNQ YICRLNRSDS DSSTLAKKSL FVRNSTERRS LRVKRTVCQS
VLRRTTQECP VRTSLDLELD LQASLTRQSR LNDELQALRD LRQKLEELKA QGETDLPPGV
LEDERFQRLL KQAEKQAEQS KEEQKQGLNA EKLMRQVSKD VCRLREQSQK VPRQVQSFRE
KIAYFTRAKI SIPSLPADDV *

mutated AA sequence

MPRLRVHGAC LPTKSVLFLF YHRLTMLREA SHEIVAEKEA EVKLPEDSSC TEDLSSCTSV
PEMNEDGNRK ESNCAKDLRS QPPTRIPTLV DKETNTDEAA NDNMAVRPKE RSSLSSRQHP
FVRSSVIVRS QTFSPGERNQ YICRLNRSDS DSSTLAKKSL FVRNSTERRS LRVKRTVCQS
VLRRTTQECP VRTSLDLELD LQASLTRQSR LNDELQALRD LRQKLEELKA QGETDLPPGV
LEDERFQRLL KQAEKQAEQS KEEQKQGLNA EKLMRQVSKD VCRLREQSQK VPRQVQSFRE
KIAYFTRAKI SIPSLPADDV *

speed

1.08 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