mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999992 (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)

chr2:202082459T>AN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000313728

Genbank transcript ID

NM_001206524

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1363T>A
cDNA.1487T>A
g.34856T>A

AA changes

L455I Score: 5 explain score(s)

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

455

frameshift

known variant

Reference ID: rs13006529

database	homozygous (A/A)	heterozygous	allele carriers
1000G	289	1070	1359
ExAC	10769	11229	21998

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.506	0
	-0.434	0
(flanking)	-1.305	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	34848	wt: 0.3478 / mu: 0.3575 (marginal change - not scored)	wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG	atgc\|ACTT
Donor marginally increased	34860	wt: 0.9641 / mu: 0.9793 (marginal change - not scored)	wt: ATTATAGCAGAGAGT mu: AATATAGCAGAGAGT	TATA\|gcag
Donor increased	34855	wt: 0.59 / mu: 0.75	wt: CTTTCATTATAGCAG mu: CTTTCAATATAGCAG	TTCA\|ttat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

455

mutated

all conserved

455

Ptroglodytes

no alignment

ENSPTRG00000012800

n/a

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000017426

n/a

Drerio

no alignment

ENSDARG00000070272

n/a

Dmelanogaster

no alignment

FBgn0019972

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004145

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1368 / 1368

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

456 / 456

position of stopcodon in wt / mu cDNA

1492 / 1492

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

125 / 125

chromosome

strand

last intron/exon boundary

1339

theoretical NMD boundary in CDS

1164

length of CDS

1368

coding sequence (CDS) position

1363

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

1487

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

34856

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

202082459

original gDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered gDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

original cDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered cDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

wildtype AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPQE SWQNKHAGSN
EILSHVFQWL GFTVHIHNNV TKVEMEMVLQ KQKCNPAHAD GDCFVFCILT HGRFGAVYSS
DEALIPIREI MSHFTALQCP RLAEKPKLFF IQACQGEEIQ PSVSIEADAL NPEQAPTSLQ
DSIPAEADFL LGLATVPGYV SFRHVEEGSW YIQSLCNHLK KLVPRHEDIL SILTAVNDDV
SRRVDKQGTK KQMPQPAFTL RKKLVFPVPL DALSL*

mutated AA sequence

speed

0.81 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