Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999920246 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950115)
  • known disease mutation at this position (HGMD CM994112)
  • known disease mutation: rs3856 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52523836C>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.1537G>A
cDNA.1611G>A
g.61795G>A
AA changes G513S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 513
frameshift no
known variant Reference ID: rs28942076
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs3856 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950115)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950115)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994112)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950115)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994112)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950115)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950115)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994112)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950115)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994112)
regulatory features 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)6.3681
6.3681
(flanking)0.8691
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 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      513STLTLVVWIVIGFIDFGVVQRYFP
mutated  not conserved    513STLTLVVWIVISFIDFGVVQRYF
Ptroglodytes  all identical  ENSPTRG00000005897  891STLTLVVWIVIGFIDFGVVQKYF
Mmulatta  all identical  ENSMMUG00000016520  902LVVWIVIGFIDFGVVQKYF
Fcatus  all identical  ENSFCAG00000003710  931STLTLVVWIIIGFIDFGVVQKYF
Mmusculus  all identical  ENSMUSG00000006567  945STLTLVVWIVIGFVDFGVVQKYF
Ggallus  all identical  ENSGALG00000017021  920AWITIGFINFDIIQKYF
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  663SSITLIAWIIIGFSNPNLVPVAM
Celegans  not conserved  Y76A2A.2  708SLFTLGVWI---YIEYNSARNAN
Xtropicalis  all identical  ENSXETG00000020713  898TWIIIGFVNFDIIIKYF
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
489555DOMAINHMA 5.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 1537
cDNA position
(for ins/del: last normal base / first normal base)		 1611
gDNA position
(for ins/del: last normal base / first normal base)		 61795
chromosomal position
(for ins/del: last normal base / first normal base)		 52523836
original gDNA sequence snippet TGGTGGTATGGATTGTAATCGGTTTTATCGATTTTGGTGTT
altered gDNA sequence snippet TGGTGGTATGGATTGTAATCAGTTTTATCGATTTTGGTGTT
original cDNA sequence snippet TGGTGGTATGGATTGTAATCGGTTTTATCGATTTTGGTGTT
altered cDNA sequence snippet TGGTGGTATGGATTGTAATCAGTTTTATCGATTTTGGTGTT
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 VISFIDFGVV 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*
speed 1.21 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