mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999810633733 (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)

chr10:115489152C>GN/A show variant in all transcripts IGV

HGNC symbol

CASP7

Ensembl transcript ID

ENST00000369331

Genbank transcript ID

NM_033340

UniProt peptide

P55210

alteration type

single base exchange

alteration region

CDS

DNA changes

c.731C>G
cDNA.877C>G
g.50211C>G

AA changes

T244S Score: 58 explain score(s)

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

244

frameshift

known variant

Reference ID: rs2227310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	182	887	1069
ExAC	4335	22869	27204

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.959	0.063
	0.129	0.091
(flanking)	3.544	0.998

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 gained	50205	0.39	mu: CACGGAAAAGAGCTG	CGGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

244

mutated

all conserved

244

Ptroglodytes

no alignment

ENSPTRG00000002952

n/a

Mmulatta

no alignment

ENSMMUG00000001217

n/a

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000025076

n/a

Ggallus

no alignment

ENSGALG00000008933

n/a

Trubripes

no alignment

ENSTRUG00000012543

n/a

Drerio

no alignment

ENSDARG00000091836

n/a

Dmelanogaster

no alignment

FBgn0019972

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000016471

n/a

protein features

start (aa)	end (aa)	feature	details
240	252	HELIX		lost
253	255	TURN		might get lost (downstream of altered splice site)
258	272	HELIX		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
290	293	STRAND		might get lost (downstream of altered splice site)
296	298	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

762 / 762

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

254 / 254

position of stopcodon in wt / mu cDNA

908 / 908

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

147 / 147

chromosome

strand

last intron/exon boundary

795

theoretical NMD boundary in CDS

598

length of CDS

762

coding sequence (CDS) position

731

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

877

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

50211

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

115489152

original gDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered gDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

original cDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered cDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

wildtype AA sequence

MADDQGCIEE QGVEDSANED SVDAKPDRSS FVPSLFSKKK KNVTMRSIKT TRDRVPTYQY
NMNFEKLGKC IIINNKNFDK VTGMGVRNGT DKDAEALFKC FRSLGFDVIV YNDCSCAKMQ
DLLKKASEED HTNAACFACI LLSHGEENME SCSVTQAGVQ RRDLGRLQPP PPRLAEGPSL
MMASRPTRGP SMTQMLILDT RSQWKLTSSS PIPRFQAITR GGAQEEAPGL CKPSAPSWRS
TEKTWKSCRS SPG*

mutated AA sequence

speed

1.11 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