mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998142 (explain)

Summary

amino acid sequence changed
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

ENST00000346817

Genbank transcript ID

NM_001230

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

CDS

DNA changes

c.724C>T
cDNA.871C>T
g.25234C>T

AA changes

L242F Score: 22 explain score(s)

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

242

frameshift

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

242

mutated

not conserved

242

Ptroglodytes

all identical

ENSPTRG00000012800

253

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000017426

249

FRV

Drerio

all conserved

ENSDARG00000070272

280

Dmelanogaster

all conserved

FBgn0019972

EVP

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004145

264

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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1440 / 1440

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

480 / 480

position of stopcodon in wt / mu cDNA

1587 / 1587

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

148 / 148

chromosome

strand

last intron/exon boundary

1434

theoretical NMD boundary in CDS

1236

length of CDS

1440

coding sequence (CDS) position

724

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

871

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

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered cDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

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 KTFLEALPRA AVYRMNRNHR
GLCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRH EDILSILTAV NDDVSRRVDK QGTKKQMPQP AFTLRKKLVF PVPLDALSL*

mutated AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPRA AVYRMNRNHR
GFCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRH EDILSILTAV NDDVSRRVDK QGTKKQMPQP AFTLRKKLVF PVPLDALSL*

speed

1.24 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