mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999989167862575 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:7293715C>TN/A show variant in all transcripts IGV

HGNC symbol

PLSCR3

Ensembl transcript ID

ENST00000574401

Genbank transcript ID

NM_020360

UniProt peptide

Q9NRY6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.877G>A
cDNA.1369G>A
g.13702G>A

AA changes

V293I Score: 29 explain score(s)

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

293

frameshift

known variant

Reference ID: rs3744549

database	homozygous (T/T)	heterozygous	allele carriers
1000G	806	1019	1825
ExAC	7101	4962	12063

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.78	0.995
	-0.909	0.868
(flanking)	1.217	0.975

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 marginally increased	13705	wt: 0.2110 / mu: 0.2380 (marginal change - not scored)	wt: GCGCTGGGCCCTCTGCCGTCACCAGTTAGAGGCCACCATGG mu: GCGCTGGGCCCTCTGCCATCACCAGTTAGAGGCCACCATGG	gtca\|CCAG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

293

mutated

all conserved

293

Ptroglodytes

all conserved

ENSPTRG00000008683

293

Mmulatta

all identical

ENSMMUG00000015617

293

Fcatus

all identical

ENSFCAG00000010894

291

Mmusculus

all conserved

ENSMUSG00000019461

294

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000011144

n/a

Drerio

no alignment

ENSDARG00000069432

n/a

Dmelanogaster

no alignment

FBgn0052056

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
283	295	TOPO_DOM	Extracellular (By similarity).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

888 / 888

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

296 / 296

position of stopcodon in wt / mu cDNA

1380 / 1380

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

493 / 493

chromosome

strand

-1

last intron/exon boundary

1324

theoretical NMD boundary in CDS

781

length of CDS

888

coding sequence (CDS) position

877

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

1369

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

13702

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

7293715

original gDNA sequence snippet

GAGGCGCTGGGCCCTCTGCCGTCACCAGTTAGAGGCCACCA

altered gDNA sequence snippet

GAGGCGCTGGGCCCTCTGCCATCACCAGTTAGAGGCCACCA

original cDNA sequence snippet

GAGGCGCTGGGCCCTCTGCCGTCACCAGTTAGAGGCCACCA

altered cDNA sequence snippet

GAGGCGCTGGGCCCTCTGCCATCACCAGTTAGAGGCCACCA

wildtype AA sequence

MAGYLPPKGY APSPPPPYPV TPGYPEPALH PGPGQAPVPA QVPAPAPGFA LFPSPGPVAL
GSAAPFLPLP GVPSGLEFLV QIDQILIHQK AERVETFLGW ETCNRYELRS GAGQPLGQAA
EESNCCARLC CGARRPLRVR LADPGDREVL RLLRPLHCGC SCCPCGLQEM EVQAPPGTTI
GHVLQTWHPF LPKFSIQDAD RQTVLRVVGP CWTCGCGTDT NFEVKTRDES RSVGRISKQW
GGLVREALTD ADDFGLQFPL DLDVRVKAVL LGATFLIDYM FFEKRGGAGP SAVTS*

mutated AA sequence

speed

0.83 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