Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.90270802945555e-06 (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 CM116966)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52524488T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000344297
Genbank transcript ID NM_001005918
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.2009A>G
cDNA.2166A>G
g.61143A>G
AA changes K670R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 670
frameshift no
known variant Reference ID: rs1061472
databasehomozygous (C/C)heterozygousallele carriers
1000G63612441880
ExAC17668-256915099

known disease mutation at this position, please check HGMD for details (HGMD ID CM116966)
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
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.061
3.5271
(flanking)3.3511
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained611420.84mu: TCGTCAGGGTGGTCC GTCA|gggt
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      670PMELVQRGDIVKVVPGGKFPVDGK
mutated  all conserved    670ELVQRGDIVRVVPGGKFPVDG
Ptroglodytes  all identical  ENSPTRG00000005897  780PMELVQRGDIVKVVPGGKFPVDG
Mmulatta  all identical  ENSMMUG00000016520  815GDIVKVVPGGKFPVDG
Fcatus  all identical  ENSFCAG00000003710  820PMELVQRGDVIKVVPGGKFPVD
Mmusculus  all identical  ENSMUSG00000006567  834VQRGDVIKVVPGGKFPVDG
Ggallus  all identical  ENSGALG00000017021  809PVELVQRGDIVKVVPGGKFPVD
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  552SVDYVQRGDILKVIPGAKV
Celegans  all identical  Y76A2A.2  597NIELVQRNDLIKVVPGAKVPVDG
Xtropicalis  all identical  ENSXETG00000020713  787QRGDIVKVVPGGKFPVDG
protein features
start (aa)end (aa)featuredetails 
654675TRANSMEMHelical; (Potential).lost
676697TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
698717TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
718724TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
725745TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
746764TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
765785TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767767CONFLICTP -> L (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
786919TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
837837CONFLICTG -> A (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
920942TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
943972TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
973994TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9951322TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10271027ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
10391044STRANDmight get lost (downstream of altered splice site)
10481050TURNmight get lost (downstream of altered splice site)
10531064HELIXmight get lost (downstream of altered splice site)
10721083HELIXmight get lost (downstream of altered splice site)
10911097STRANDmight get lost (downstream of altered splice site)
10981100TURNmight get lost (downstream of altered splice site)
11011107STRANDmight get lost (downstream of altered splice site)
11091113HELIXmight get lost (downstream of altered splice site)
11271130STRANDmight get lost (downstream of altered splice site)
11431149STRANDmight get lost (downstream of altered splice site)
11511158HELIXmight get lost (downstream of altered splice site)
11631173HELIXmight get lost (downstream of altered splice site)
11741176TURNmight get lost (downstream of altered splice site)
11771184STRANDmight get lost (downstream of altered splice site)
11871194STRANDmight get lost (downstream of altered splice site)
12671267METALMagnesium (By similarity).might get lost (downstream of altered splice site)
12711271METALMagnesium (By similarity).might get lost (downstream of altered splice site)
13231340TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13411351TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
13521371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13721465TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3777 / 3777
position (AA) of stopcodon in wt / mu AA sequence 1259 / 1259
position of stopcodon in wt / mu cDNA 3934 / 3934
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 158 / 158
chromosome 13
strand -1
last intron/exon boundary 3661
theoretical NMD boundary in CDS 3453
length of CDS 3777
coding sequence (CDS) position 2009
cDNA position
(for ins/del: last normal base / first normal base)		 2166
gDNA position
(for ins/del: last normal base / first normal base)		 61143
chromosomal position
(for ins/del: last normal base / first normal base)		 52524488
original gDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered gDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
original cDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered cDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
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 IIESKTSEAL AKLMSLQATE ATVVTLGEDN LIIREEQVPM
ELVQRGDIVK VVPGGKFPVD GKVLEGNTMA DESLITGEAM PVTKKPGSTV IAGSINAHGS
VLIKATHVGN DTTLAQIVKL VEEAQMSKNP NKHISQTEVI IRFAFQTSIT VLCIACPCSL
GLATPTAVMV GTGVAAQNGI LIKGGKPLEM AHKIKTVMFD KTGTITHGVP RVMRVLLLGD
VATLPLRKVL AVVGTAEASS EHPLGVAVTK YCKEELGTET LGYCTDFQAV PGCGIGCKVS
NVEGILAHSE RPLSAPASHL NEAGSLPAEK DAVPQTFSVL IGNREWLRRN GLTISSDVSD
AMTDHEMKGQ TAILVAIDGV LCGMIAIADA VKQEAALAVH TLQSMGVDVV LITGDNRKTA
RAIATQVGIN KVFAEVLPSH KVAKVQELQN KGKKVAMVGD GVNDSPALAQ ADMGVAIGTG
TDVAIEAADV VLIRNDLLDV VASIHLSKRT VRRIRINLVL ALIYNLVGIP IAAGVFMPIG
IVLQPWMGSA AMAASSVSVV LSSLQLKCYK KPDLERYEAQ AHGHMKPLTA SQVSVHIGMD
DRWRDSPRAT PWDQVSYVSQ VSLSSLTSDK PSRHSAAADD DGDKWSLLLN GRDEEQYI*
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 IIESKTSEAL AKLMSLQATE ATVVTLGEDN LIIREEQVPM
ELVQRGDIVR VVPGGKFPVD GKVLEGNTMA DESLITGEAM PVTKKPGSTV IAGSINAHGS
VLIKATHVGN DTTLAQIVKL VEEAQMSKNP NKHISQTEVI IRFAFQTSIT VLCIACPCSL
GLATPTAVMV GTGVAAQNGI LIKGGKPLEM AHKIKTVMFD KTGTITHGVP RVMRVLLLGD
VATLPLRKVL AVVGTAEASS EHPLGVAVTK YCKEELGTET LGYCTDFQAV PGCGIGCKVS
NVEGILAHSE RPLSAPASHL NEAGSLPAEK DAVPQTFSVL IGNREWLRRN GLTISSDVSD
AMTDHEMKGQ TAILVAIDGV LCGMIAIADA VKQEAALAVH TLQSMGVDVV LITGDNRKTA
RAIATQVGIN KVFAEVLPSH KVAKVQELQN KGKKVAMVGD GVNDSPALAQ ADMGVAIGTG
TDVAIEAADV VLIRNDLLDV VASIHLSKRT VRRIRINLVL ALIYNLVGIP IAAGVFMPIG
IVLQPWMGSA AMAASSVSVV LSSLQLKCYK KPDLERYEAQ AHGHMKPLTA SQVSVHIGMD
DRWRDSPRAT PWDQVSYVSQ VSLSSLTSDK PSRHSAAADD DGDKWSLLLN GRDEEQYI*
speed 1.04 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