Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999997901388897 (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 ENST00000400370
Genbank transcript ID N/A
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.1917C>A
cDNA.1991C>A
g.67350C>A
AA changes H639Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 639
frameshift no
known variant Reference ID: rs76151636
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC0109109

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
PhyloPPhastCons
(flanking)6.0541
0.5431
(flanking)51
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased67342wt: 0.9841 / mu: 0.9914 (marginal change - not scored)wt: CCAGCAGTGAACACC
mu: CCAGCAGTGAACAAC		 AGCA|gtga
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      639AVVGTAEASSEHPLGVAVTKYCKE
mutated  not conserved    639AVVGTAEASSEQPLGVAVTKYCK
Ptroglodytes  all identical  ENSPTRG00000005897  1017AVVGTAEASSEHPLGVAVTKYCK
Mmulatta  all identical  ENSMMUG00000016520  1028AVVWTAEASSEHPLGVAVTKYCK
Fcatus  all identical  ENSFCAG00000003710  1057AVVGTAEASSEHPLGVAVTKYCK
Mmusculus  all identical  ENSMUSG00000006567  1071AVVGTAEASSEHPLGVAVTKYCK
Ggallus  all identical  ENSGALG00000017021  1046AVVGTAEASSEHPLGVAVTKYCK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  788TIVGAAEQNSEHPIASAIVHFAK
Celegans  all identical  Y76A2A.2  828FLSGATEALSEHPIGNAVAAFAK
Xtropicalis  all identical  ENSXETG00000020713  1024AVVGTAEASSEHPLGMAVTKYCK
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3108 / 3108
position (AA) of stopcodon in wt / mu AA sequence 1036 / 1036
position of stopcodon in wt / mu cDNA 3182 / 3182
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 13
strand -1
last intron/exon boundary 2909
theoretical NMD boundary in CDS 2784
length of CDS 3108
coding sequence (CDS) position 1917
cDNA position
(for ins/del: last normal base / first normal base)		 1991
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
GFEASVVSGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV KLVEEAQMSK
APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH ISQTEVIIRF
AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK IKTVMFDKTG
TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK EELGTETLGY
CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV PQTFSVLIGN
REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ EAALAVHTLQ
SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK KVAMVGDGVN
DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR IRINLVLALI
YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD LERYEAQAHG
HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR HSAAADDDGD
KWSLLLNGRD EEQYI*
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
GFEASVVSGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV KLVEEAQMSK
APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH ISQTEVIIRF
AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK IKTVMFDKTG
TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEQP LGVAVTKYCK EELGTETLGY
CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV PQTFSVLIGN
REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ EAALAVHTLQ
SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK KVAMVGDGVN
DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR IRINLVLALI
YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD LERYEAQAHG
HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR HSAAADDDGD
KWSLLLNGRD EEQYI*
speed 0.97 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