mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999927891662 (explain)

Summary

known disease mutation at this position (HGMD CM990324)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202072837C>TN/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

intron

DNA changes

g.25234C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs17860403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.004
	-0.504	0
(flanking)	-0.134	0.004

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 increased	25228	wt: 0.73 / mu: 0.81	wt: ACCACAGAGGCCTCT mu: ACCACAGAGGCTTCT	CACA\|gagg

distance from splice site

956

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
268	268	CONFLICT	T -> A (in Ref. 3; AAD28403).	might get lost (downstream of altered splice site)
358	358	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	MUTAGEN	C->A: Abolishes proteolytic activity.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

N/A

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

N/A

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

25234

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

202072837

original gDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered gDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

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

N/A

speed

0.89 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