mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.996693520912043 (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 CM1314561)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:20698270A>GN/A show variant in all transcripts IGV

HGNC symbol

ABCB5

Ensembl transcript ID

ENST00000443026

Genbank transcript ID

NM_001163942

UniProt peptide

Q2M3G0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.343A>G
cDNA.889A>G
g.43441A>G

AA changes

K115E Score: 56 explain score(s)

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

115

frameshift

known variant

Reference ID: rs2301641

database	homozygous (G/G)	heterozygous	allele carriers
1000G	387	1048	1435
ExAC	7340	18087	25427

known disease mutation at this position, please check HGMD for details (HGMD ID CM1314561)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.172	0.201
	3.254	0.995
(flanking)	4.947	0.998

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	43433	wt: 0.45 / mu: 0.61	wt: GGATTCAGAAAGCAA mu: GGATTCAGAAAGCGA	ATTC\|agaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

115

mutated

all conserved

115

Ptroglodytes

all conserved

ENSPTRG00000018966

560

Mmulatta

all conserved

ENSMMUG00000007821

134

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000072791

561

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0010241

605

Celegans

all conserved

C34G6.4

573

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	247	TOPO_DOM	Extracellular (Potential).	lost
2	177	DOMAIN	ABC transporter 1.	lost
132	132	CONFLICT	I -> M (in Ref. 1; AAN76500).	might get lost (downstream of altered splice site)
247	535	DOMAIN	ABC transmembrane type-1.	might get lost (downstream of altered splice site)
248	268	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
269	291	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
292	312	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
313	381	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
382	402	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
403	471	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
472	492	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
493	508	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
509	529	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
530	812	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
570	808	DOMAIN	ABC transporter 2.	might get lost (downstream of altered splice site)
605	612	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
696	696	CONFLICT	L -> P (in Ref. 2; AAW31630).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

396 / 396

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

132 / 132

position of stopcodon in wt / mu cDNA

942 / 942

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

547 / 547

chromosome

strand

last intron/exon boundary

919

theoretical NMD boundary in CDS

322

length of CDS

396

coding sequence (CDS) position

343

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

889

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

43441

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

20698270

original gDNA sequence snippet

CTGCCCTGGATTCAGAAAGCAAGTCAGCTGTTCAAGCTGCA

altered gDNA sequence snippet

CTGCCCTGGATTCAGAAAGCGAGTCAGCTGTTCAAGCTGCA

original cDNA sequence snippet

CTGCCCTGGATTCAGAAAGCAAGTCAGCTGTTCAAGCTGCA

altered cDNA sequence snippet

CTGCCCTGGATTCAGAAAGCGAGTCAGCTGTTCAAGCTGCA

wildtype AA sequence

MVDENDIRAL NVRHYRDHIG VVSQEPVLFG TTISNNIKYG RDDVTDEEME RAAREANAYD
FIMEFPNKFN TLVGEKGAQM SGGQKQRIAI ARALVRNPKI LILDEATSAL DSESKSAVQA
ALEKDTPRYS F*

mutated AA sequence

MVDENDIRAL NVRHYRDHIG VVSQEPVLFG TTISNNIKYG RDDVTDEEME RAAREANAYD
FIMEFPNKFN TLVGEKGAQM SGGQKQRIAI ARALVRNPKI LILDEATSAL DSESESAVQA
ALEKDTPRYS F*

speed

0.67 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