mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.00656102422738841 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM930059)
known disease mutation: rs3848 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52518281G>TN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000418097

Genbank transcript ID

N/A

UniProt peptide

P35670

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3012C>A
cDNA.3086C>A
g.67350C>A

AA changes

H1004Q Score: 24 explain score(s)

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

1004

frameshift

known variant

Reference ID: rs76151636

database	homozygous (T/T)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	109	109

known disease mutation: rs3848 (pathogenic for Wilson disease|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM930059)

known disease mutation at this position, please check HGMD for details (HGMD ID CM930059)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930059)

regulatory features

H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.054	1
	0.543	1
(flanking)	5	1

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 marginally increased	67342	wt: 0.9841 / mu: 0.9914 (marginal change - not scored)	wt: CCAGCAGTGAACACC mu: CCAGCAGTGAACAAC	AGCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1004

mutated

not conserved

1004

Ptroglodytes

not conserved

ENSPTRG00000005897

952

NGILIKGG

AHK

Mmulatta

not conserved

ENSMMUG00000016520

964

NGILIKGG

AHK

Fcatus

not conserved

ENSFCAG00000003710

1018

Mmusculus

not conserved

ENSMUSG00000006567

1036

HGVPRVMRFLLLADVATLPLRK

Ggallus

not conserved

ENSGALG00000017021

1027

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030343

788

Celegans

all identical

Y76A2A.2

828

Xtropicalis

not conserved

ENSXETG00000020713

960

NGILIKGG

AHK

protein features

start (aa)	end (aa)	feature	details
995	1322	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4203 / 4203

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

1401 / 1401

position of stopcodon in wt / mu cDNA

4277 / 4277

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

75 / 75

chromosome

strand

-1

last intron/exon boundary

4004

theoretical NMD boundary in CDS

3879

length of CDS

4203

coding sequence (CDS) position

3012

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

3086

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

67350

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

52518281

original gDNA sequence snippet

GCGGAGGCCAGCAGTGAACACCCCTTGGGCGTGGCAGTCAC

altered gDNA sequence snippet

GCGGAGGCCAGCAGTGAACAACCCTTGGGCGTGGCAGTCAC

original cDNA sequence snippet

GCGGAGGCCAGCAGTGAACACCCCTTGGGCGTGGCAGTCAC

altered cDNA sequence snippet

GCGGAGGCCAGCAGTGAACAACCCTTGGGCGTGGCAGTCAC

wildtype AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPIKTVM
FDKTGTITHG VPRVMRVLLL GDVATLPLRK VLAVVGTAEA SSEHPLGVAV TKYCKEELGT
ETLGYCTDFQ AVPGCGIGCK VSNVEGILAH SERPLSAPAS HLNEAGSLPA EKDAVPQTFS
VLIGNREWLR RNGLTISSDV SDAMTDHEMK GQTAILVAID GVLCGMIAIA DAVKQEAALA
VHTLQSMGVD VVLITGDNRK TARAIATQVG INKVFAEVLP SHKVAKVQEL QNKGKKVAMV
GDGVNDSPAL AQADMGVAIG TGTDVAIEAA DVVLIRNDLL DVVASIHLSK RTVRRIRINL
VLALIYNLVG IPIAAGVFMP IGIVLQPWMG SAAMAASSVS VVLSSLQLKC YKKPDLERYE
AQAHGHMKPL TASQVSVHIG MDDRWRDSPR ATPWDQVSYV SQVSLSSLTS DKPSRHSAAA
DDDGDKWSLL LNGRDEEQYI *

mutated AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPIKTVM
FDKTGTITHG VPRVMRVLLL GDVATLPLRK VLAVVGTAEA SSEQPLGVAV TKYCKEELGT
ETLGYCTDFQ AVPGCGIGCK VSNVEGILAH SERPLSAPAS HLNEAGSLPA EKDAVPQTFS
VLIGNREWLR RNGLTISSDV SDAMTDHEMK GQTAILVAID GVLCGMIAIA DAVKQEAALA
VHTLQSMGVD VVLITGDNRK TARAIATQVG INKVFAEVLP SHKVAKVQEL QNKGKKVAMV
GDGVNDSPAL AQADMGVAIG TGTDVAIEAA DVVLIRNDLL DVVASIHLSK RTVRRIRINL
VLALIYNLVG IPIAAGVFMP IGIVLQPWMG SAAMAASSVS VVLSSLQLKC YKKPDLERYE
AQAHGHMKPL TASQVSVHIG MDDRWRDSPR ATPWDQVSYV SQVSLSSLTS DKPSRHSAAA
DDDGDKWSLL LNGRDEEQYI *

speed

1.32 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