mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999245656 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM058363)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121838319G>AN/A show variant in all transcripts IGV

HGNC symbol

CD86

Ensembl transcript ID

ENST00000330540

Genbank transcript ID

NM_175862

UniProt peptide

P42081

alteration type

single base exchange

alteration region

CDS

DNA changes

c.928G>A
cDNA.1044G>A
g.64107G>A

AA changes

A310T Score: 58 explain score(s)

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

310

frameshift

known variant

Reference ID: rs1129055

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	6546	19675	26221

known disease mutation at this position, please check HGMD for details (HGMD ID CM058363)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.975	0.031
	1.29	0.034
(flanking)	-0.987	0

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	64108	wt: 0.80 / mu: 0.92	wt: TGAAGCCCAGCGTGT mu: TGAAACCCAGCGTGT	AAGC\|ccag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

310

mutated

not conserved

310

Ptroglodytes

all identical

ENSPTRG00000015288

310

Mmulatta

all identical

ENSMMUG00000000912

309

Fcatus

all identical

ENSFCAG00000008716

309

Mmusculus

no alignment

ENSMUSG00000022901

n/a

Ggallus

no alignment

ENSGALG00000014362

n/a

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
269	329	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

990 / 990

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

330 / 330

position of stopcodon in wt / mu cDNA

1106 / 1106

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

117 / 117

chromosome

strand

last intron/exon boundary

1010

theoretical NMD boundary in CDS

843

length of CDS

990

coding sequence (CDS) position

928

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

1044

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

64107

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

121838319

original gDNA sequence snippet

TACCTGAAAGATCTGATGAAGCCCAGCGTGTTTTTAAAAGT

altered gDNA sequence snippet

TACCTGAAAGATCTGATGAAACCCAGCGTGTTTTTAAAAGT

original cDNA sequence snippet

TACCTGAAAGATCTGATGAAGCCCAGCGTGTTTTTAAAAGT

altered cDNA sequence snippet

TACCTGAAAGATCTGATGAAACCCAGCGTGTTTTTAAAAGT

wildtype AA sequence

MDPQCTMGLS NILFVMAFLL SGAAPLKIQA YFNETADLPC QFANSQNQSL SELVVFWQDQ
ENLVLNEVYL GKEKFDSVHS KYMGRTSFDS DSWTLRLHNL QIKDKGLYQC IIHHKKPTGM
IRIHQMNSEL SVLANFSQPE IVPISNITEN VYINLTCSSI HGYPEPKKMS VLLRTKNSTI
EYDGVMQKSQ DNVTELYDVS ISLSVSFPDV TSNMTIFCIL ETDKTRLLSS PFSIELEDPQ
PPPDHIPWIT AVLPTVIICV MVFCLILWKW KKKKRPRNSY KCGTNTMERE ESEQTKKREK
IHIPERSDEA QRVFKSSKTS SCDKSDTCF*

mutated AA sequence

speed

1.03 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