mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.998006240374353 (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

ENST00000404938

Genbank transcript ID

NM_001163941

UniProt peptide

Q2M3G0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1678A>G
cDNA.2330A>G
g.43441A>G

AA changes

K560E Score: 56 explain score(s)

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

560

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

560

mutated

all conserved

560

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
530	812	TOPO_DOM	Cytoplasmic (Potential).	lost
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

3774 / 3774

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

1258 / 1258

position of stopcodon in wt / mu cDNA

4426 / 4426

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

653 / 653

chromosome

strand

last intron/exon boundary

4229

theoretical NMD boundary in CDS

3526

length of CDS

3774

coding sequence (CDS) position

1678

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

2330

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

MENSERAEEM QENYQRNGTA EEQPKLRKEA VGSIEIFRFA DGLDITLMIL GILASLVNGA
CLPLMPLVLG EMSDNLISGC LVQTNTTNYQ NCTQSQEKLN EDMTLLTLYY VGIGVAALIF
GYIQISLWII TAARQTKRIR KQFFHSVLAQ DIGWFDSCDI GELNTRMTDD IDKISDGIGD
KIALLFQNMS TFSIGLAVGL VKGWKLTLVT LSTSPLIMAS AAACSRMVIS LTSKELSAYS
KAGAVAEEVL SSIRTVIAFR AQEKELQRYT QNLKDAKDFG IKRTIASKVS LGAVYFFMNG
TYGLAFWYGT SLILNGEPGY TIGTVLAVFF SVIHSSYCIG AAVPHFETFA IARGAAFHIF
QVIDKKPSID NFSTAGYKPE SIEGTVEFKN VSFNYPSRPS IKILKGLNLR IKSGETVALV
GLNGSGKSTV VQLLQRLYDP DDGFIMVDEN DIRALNVRHY RDHIGVVSQE PVLFGTTISN
NIKYGRDDVT DEEMERAARE ANAYDFIMEF PNKFNTLVGE KGAQMSGGQK QRIAIARALV
RNPKILILDE ATSALDSESK SAVQAALEKA SKGRTTIVVA HRLSTIRSAD LIVTLKDGML
AEKGAHAELM AKRGLYYSLV MSQDIKKADE QMESMTYSTE RKTNSLPLHS VKSIKSDFID
KAEESTQSKE ISLPEVSLLK ILKLNKPEWP FVVLGTLASV LNGTVHPVFS IIFAKIITMF
GNNDKTTLKH DAEIYSMIFV ILGVICFVSY FMQGLFYGRA GEILTMRLRH LAFKAMLYQD
IAWFDEKENS TGGLTTILAI DIAQIQGATG SRIGVLTQNA TNMGLSVIIS FIYGWEMTFL
ILSIAPVLAV TGMIETAAMT GFANKDKQEL KHAGKIATEA LENIRTIVSL TREKAFEQMY
EEMLQTQHRN TSKKAQIIGS CYAFSHAFIY FAYAAGFRFG AYLIQAGRMT PEGMFIVFTA
IAYGAMAIGE TLVLAPEYSK AKSGAAHLFA LLEKKPNIDS RSQEGKKPDT CEGNLEFREV
SFFYPCRPDV FILRGLSLSI ERGKTVAFVG SSGCGKSTSV QLLQRLYDPV QGQVLFDGVD
AKELNVQWLR SQIAIVPQEP VLFNCSIAEN IAYGDNSRVV PLDEIKEAAN AANIHSFIEG
LPEKYNTQVG LKGAQLSGGQ KQRLAIARAL LQKPKILLLD EATSALDNDS EKVVQHALDK
ARTGRTCLVV THRLSAIQNA DLIVVLHNGK IKEQGTHQEL LRNRDIYFKL VNAQSVQ*

mutated AA sequence

MENSERAEEM QENYQRNGTA EEQPKLRKEA VGSIEIFRFA DGLDITLMIL GILASLVNGA
CLPLMPLVLG EMSDNLISGC LVQTNTTNYQ NCTQSQEKLN EDMTLLTLYY VGIGVAALIF
GYIQISLWII TAARQTKRIR KQFFHSVLAQ DIGWFDSCDI GELNTRMTDD IDKISDGIGD
KIALLFQNMS TFSIGLAVGL VKGWKLTLVT LSTSPLIMAS AAACSRMVIS LTSKELSAYS
KAGAVAEEVL SSIRTVIAFR AQEKELQRYT QNLKDAKDFG IKRTIASKVS LGAVYFFMNG
TYGLAFWYGT SLILNGEPGY TIGTVLAVFF SVIHSSYCIG AAVPHFETFA IARGAAFHIF
QVIDKKPSID NFSTAGYKPE SIEGTVEFKN VSFNYPSRPS IKILKGLNLR IKSGETVALV
GLNGSGKSTV VQLLQRLYDP DDGFIMVDEN DIRALNVRHY RDHIGVVSQE PVLFGTTISN
NIKYGRDDVT DEEMERAARE ANAYDFIMEF PNKFNTLVGE KGAQMSGGQK QRIAIARALV
RNPKILILDE ATSALDSESE SAVQAALEKA SKGRTTIVVA HRLSTIRSAD LIVTLKDGML
AEKGAHAELM AKRGLYYSLV MSQDIKKADE QMESMTYSTE RKTNSLPLHS VKSIKSDFID
KAEESTQSKE ISLPEVSLLK ILKLNKPEWP FVVLGTLASV LNGTVHPVFS IIFAKIITMF
GNNDKTTLKH DAEIYSMIFV ILGVICFVSY FMQGLFYGRA GEILTMRLRH LAFKAMLYQD
IAWFDEKENS TGGLTTILAI DIAQIQGATG SRIGVLTQNA TNMGLSVIIS FIYGWEMTFL
ILSIAPVLAV TGMIETAAMT GFANKDKQEL KHAGKIATEA LENIRTIVSL TREKAFEQMY
EEMLQTQHRN TSKKAQIIGS CYAFSHAFIY FAYAAGFRFG AYLIQAGRMT PEGMFIVFTA
IAYGAMAIGE TLVLAPEYSK AKSGAAHLFA LLEKKPNIDS RSQEGKKPDT CEGNLEFREV
SFFYPCRPDV FILRGLSLSI ERGKTVAFVG SSGCGKSTSV QLLQRLYDPV QGQVLFDGVD
AKELNVQWLR SQIAIVPQEP VLFNCSIAEN IAYGDNSRVV PLDEIKEAAN AANIHSFIEG
LPEKYNTQVG LKGAQLSGGQ KQRLAIARAL LQKPKILLLD EATSALDNDS EKVVQHALDK
ARTGRTCLVV THRLSAIQNA DLIVVLHNGK IKEQGTHQEL LRNRDIYFKL VNAQSVQ*

speed

0.54 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