mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000508579

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.368G>C
cDNA.657G>C
g.220810G>C

AA changes

C123S Score: 112 explain score(s)

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

123

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	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 increased	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

123

mutated

not conserved

123

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

452

Ggallus

not conserved

ENSGALG00000014682

375

Trubripes

not conserved

ENSTRUG00000014934

117

Drerio

not conserved

ENSDARG00000058693

470

TKDIPKTK

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
142	142	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
170	222	REPEAT	Inhibitory domain 1.	might get lost (downstream of altered splice site)
222	222	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
243	243	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
304	356	REPEAT	Inhibitory domain 2.	might get lost (downstream of altered splice site)
364	364	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
366	366	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
373	373	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1272 / 1272

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

424 / 424

position of stopcodon in wt / mu cDNA

1561 / 1561

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

290 / 290

chromosome

strand

last intron/exon boundary

1585

theoretical NMD boundary in CDS

1245

length of CDS

1272

coding sequence (CDS) position

368

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

657

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MSDQALEALS ASLGTRQAEP ELDLRSIKEV DEAKAKEEKL EKCGEDDETI PSEYRLKPAT
DKDGKPLLPE PEEKPKPRSE SELIDELSED FDRSECKEKP SKPTEKTEES KAAAPAPVSE
AVCRTSMCSI QSAPPEPATL KGTVPDDAVE ALADSLGKKE ADPEDGKPVM DKVKEKAKEE
DREKLGEKEE TIPPDYRLEE VKDKDGKPLL PKESKEQLPP MSEDFLLDAL SEDFSGPQNA
SSLKFEDAKL AAAISEVVSQ TPASTTQAGA PPRDTSQSDK DLDDALDKLS DSLGQRQPDP
DENKPMEDKV KEKAKAEHRD KLGERDDTIP PEYRHLLDDN GQDKPVKPPT KKSEDSKKPA
DDQDPIDALS GDLDSCPSTT ETSQNTAKDK CKKAASSSKA PKNGGKAKDS AKTTEETSKP
KDD*

mutated AA sequence

MSDQALEALS ASLGTRQAEP ELDLRSIKEV DEAKAKEEKL EKCGEDDETI PSEYRLKPAT
DKDGKPLLPE PEEKPKPRSE SELIDELSED FDRSECKEKP SKPTEKTEES KAAAPAPVSE
AVSRTSMCSI QSAPPEPATL KGTVPDDAVE ALADSLGKKE ADPEDGKPVM DKVKEKAKEE
DREKLGEKEE TIPPDYRLEE VKDKDGKPLL PKESKEQLPP MSEDFLLDAL SEDFSGPQNA
SSLKFEDAKL AAAISEVVSQ TPASTTQAGA PPRDTSQSDK DLDDALDKLS DSLGQRQPDP
DENKPMEDKV KEKAKAEHRD KLGERDDTIP PEYRHLLDDN GQDKPVKPPT KKSEDSKKPA
DDQDPIDALS GDLDSCPSTT ETSQNTAKDK CKKAASSSKA PKNGGKAKDS AKTTEETSKP
KDD*

speed

1.07 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