Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999979802148 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950116)
  • known disease mutation: rs3860 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52520574C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000417240
Genbank transcript ID N/A
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.722G>A
cDNA.864G>A
g.65057G>A
AA changes R241Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 241
frameshift no
known variant Reference ID: rs121907996
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs3860 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950116)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950116)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950116)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1730.961
5.961
(flanking)3.2051
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      241NKHISQTEVIIRFAFQTSITVLCI
mutated  all conserved    241QFAFQTSITVLC
Ptroglodytes  all identical  ENSPTRG00000005897  917RFAFQTSITVLC
Mmulatta  all identical  ENSMMUG00000016520  928RFAFQTSITVLC
Fcatus  all identical  ENSFCAG00000003710  957RFAFQTSITVLCIACPCSLG
Mmusculus  all identical  ENSMUSG00000006567  971RFAFQTSITVLCIACPCSLG
Ggallus  all identical  ENSGALG00000017021  946RFAFQTSITVLS
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0030343  747KTGTITHGTPMTSKVTLFV
Celegans  not conserved  Y76A2A.2  731FEAAITVLAIACPCSLG
Xtropicalis  all identical  ENSXETG00000020713  924RVAFQTSITVLS
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 2031 / 2031
position (AA) of stopcodon in wt / mu AA sequence 677 / 677
position of stopcodon in wt / mu cDNA 2173 / 2173
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 143 / 143
chromosome 13
strand -1
last intron/exon boundary 1900
theoretical NMD boundary in CDS 1707
length of CDS 2031
coding sequence (CDS) position 722
cDNA position
(for ins/del: last normal base / first normal base)		 864
gDNA position
(for ins/del: last normal base / first normal base)		 65057
chromosomal position
(for ins/del: last normal base / first normal base)		 52520574
original gDNA sequence snippet CCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGTCCA
altered gDNA sequence snippet CCAGACAGAGGTGATCATCCAGTTTGCTTTCCAGACGTCCA
original cDNA sequence snippet CCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGTCCA
altered cDNA sequence snippet CCAGACAGAGGTGATCATCCAGTTTGCTTTCCAGACGTCCA
wildtype AA sequence MDVLIVLATS IAYVYSLVIL VVAVAEKAER SPVTFFDTPP MLFVFIALGR WLEHLAKSKT
SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG
NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM
SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII
RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKELGTETLG
YCTDFQAVPG CGIGCKVSNV EGILAHSERP LSAPASHLNE AGSLPAEKDA VPQTFSVLIG
NREWLRRNGL TISSDVSDAM TDHEMKGQTA ILVAIDGVLC GMIAIADAVK QEAALAVHTL
QSMGVDVVLI TGDNRKTARA IATQVGINKV FAEVLPSHKV AKVQELQNKG KKVAMVGDGV
NDSPALAQAD MGVAIGTGTD VAIEAADVVL IRNDLLDVVA SIHLSKRTVR RIRINLVLAL
IYNLVGIPIA AGVFMPIGIV LQPWMGSAAM AASSVSVVLS SLQLKCYKKP DLERYEAQAH
GHMKPLTASQ VSVHIGMDDR WRDSPRATPW DQVSYVSQVS LSSLTSDKPS RHSAAADDDG
DKWSLLLNGR DEEQYI*
mutated AA sequence MDVLIVLATS IAYVYSLVIL VVAVAEKAER SPVTFFDTPP MLFVFIALGR WLEHLAKSKT
SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG
NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM
SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII
QFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKELGTETLG
YCTDFQAVPG CGIGCKVSNV EGILAHSERP LSAPASHLNE AGSLPAEKDA VPQTFSVLIG
NREWLRRNGL TISSDVSDAM TDHEMKGQTA ILVAIDGVLC GMIAIADAVK QEAALAVHTL
QSMGVDVVLI TGDNRKTARA IATQVGINKV FAEVLPSHKV AKVQELQNKG KKVAMVGDGV
NDSPALAQAD MGVAIGTGTD VAIEAADVVL IRNDLLDVVA SIHLSKRTVR RIRINLVLAL
IYNLVGIPIA AGVFMPIGIV LQPWMGSAAM AASSVSVVLS SLQLKCYKKP DLERYEAQAH
GHMKPLTASQ VSVHIGMDDR WRDSPRATPW DQVSYVSQVS LSSLTSDKPS RHSAAADDDG
DKWSLLLNGR DEEQYI*
speed 1.00 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