mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.4384912185419e-15 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr6:42891022G>AN/A show variant in all transcripts IGV

HGNC symbol

PTCRA

Ensembl transcript ID

ENST00000446507

Genbank transcript ID

NM_001243170

UniProt peptide

Q6ISU1

alteration type

single base exchange

alteration region

intron

DNA changes

g.7296G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs9471966

database	homozygous (A/A)	heterozygous	allele carriers
1000G	196	812	1008
ExAC	3893	21130	25023

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.098	0.991
	1.931	0.998
(flanking)	2.784	0.997

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 increased	7299	wt: 0.69 / mu: 0.86	wt: CATCCTGGGAGCCTTTGGTCTGCCACACTGGGCCTGGGGCT mu: CATCCTGGGAGCCTTTGATCTGCCACACTGGGCCTGGGGCT	gtct\|GCCA

distance from splice site

945

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	23	SIGNAL	Potential.	might get lost (downstream of altered splice site)
24	146	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
33	52	STRAND		might get lost (downstream of altered splice site)
47	47	DISULFID		might get lost (downstream of altered splice site)
62	64	STRAND		might get lost (downstream of altered splice site)
66	68	STRAND		might get lost (downstream of altered splice site)
67	67	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
79	81	STRAND		might get lost (downstream of altered splice site)
82	84	TURN		might get lost (downstream of altered splice site)
85	95	STRAND		might get lost (downstream of altered splice site)
96	100	HELIX		might get lost (downstream of altered splice site)
104	109	STRAND		might get lost (downstream of altered splice site)
107	107	DISULFID		might get lost (downstream of altered splice site)
135	135	DISULFID	Interchain (with TCRB) (Probable).	might get lost (downstream of altered splice site)
135	135	DISULFID	Interchain (with TCRB) (Probable).	might get lost (downstream of altered splice site)
147	167	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
168	281	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
256	256	CONFLICT	A -> R (in Ref. 1; AAB06194, 2; AAC83346, 3; AAF89556 and 6; AAB18373).	might get lost (downstream of altered splice site)
269	269	CONFLICT	A -> R (in Ref. 1; AAB06194).	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

82 / 82

chromosome

strand

last intron/exon boundary

185

theoretical NMD boundary in CDS

length of CDS

525

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)

7296

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

42891022

original gDNA sequence snippet

TGGCATCCTGGGAGCCTTTGGTCTGCCACACTGGGCCTGGG

altered gDNA sequence snippet

TGGCATCCTGGGAGCCTTTGATCTGCCACACTGGGCCTGGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAGTWLLLLL ALGCPALPTG EASTARTCPQ EPLRGTPGGA LWLGVLRLLL FKLLLFDLLL
TCSCLCDPAG PLPSPATTTR LRALGSHRLH PATETGGREA TSSPRPQPRD RRWGDTPPGR
KPGSPVWGEG SYLSSYPTCP AQAWCSRSAL RAPSSSLGAF FAGDLPPPLQ AGAA*

mutated AA sequence

N/A

speed

0.91 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