Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999358091038      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs2380 (probable pathogenic)
  • known disease mutation at this position (HGMD CM984176)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:41928167G>AN/A show variant in all transcripts   IGV
HGNC symbol BCKDHA
Ensembl transcript ID ENST00000269980
Genbank transcript ID NM_000709
UniProt peptide P12694
alteration type single base exchange
alteration region CDS
DNA changes c.745G>A
cDNA.1113G>A
g.24803G>A
AA changes G249S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 249
frameshift no
known variant Reference ID: rs137852874
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC011

known as potential disease variant: rs2380 (probable pathogenic for Maple syrup urine disease|Maple syrup urine disease type 1A) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM984176)

known disease mutation at this position, please check HGMD for details (HGMD ID CM984176)
known disease mutation at this position, please check HGMD for details (HGMD ID CM984176)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4410.185
5.4951
(flanking)3.7241
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 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      249EGAASEGDAHAGFNFAATLECPII
mutated  not conserved    249ASEGDAHASFNFAATLECPI
Ptroglodytes  all identical  ENSPTRG00000011025  249ASEGDAHAGFNFAATLECPI
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000060376  250AASEGDAHAGFNFAATLECPI
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000009706  250EGAASEGDAHAGFNFSATLECPL
Drerio  all identical  ENSDARG00000040555  250EGAASEGDAHAGFN
Dmelanogaster  not conserved  FBgn0037709  242EGAASEGDAHAAFNFAATLGCPA
Celegans  not conserved  Y39E4A.3  234DGAASEGDAHAAFNFAATLKCPI
Xtropicalis  not conserved  ENSXETG00000018753  212EGAASEGDAHAAFNFSATLECPV
protein features
start (aa)end (aa)featuredetails 
244255HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1338 / 1338
position (AA) of stopcodon in wt / mu AA sequence 446 / 446
position of stopcodon in wt / mu cDNA 1706 / 1706
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 369 / 369
chromosome 19
strand 1
last intron/exon boundary 1536
theoretical NMD boundary in CDS 1117
length of CDS 1338
coding sequence (CDS) position 745
cDNA position
(for ins/del: last normal base / first normal base)		 1113
gDNA position
(for ins/del: last normal base / first normal base)		 24803
chromosomal position
(for ins/del: last normal base / first normal base)		 41928167
original gDNA sequence snippet GTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACA
altered gDNA sequence snippet GTGAGGGGGACGCCCATGCCAGCTTCAACTTCGCTGCCACA
original cDNA sequence snippet GTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACA
altered cDNA sequence snippet GTGAGGGGGACGCCCATGCCAGCTTCAACTTCGCTGCCACA
wildtype AA sequence MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE
FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY
ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG
NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA
ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG
NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP
ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL
RKQQESLARH LQTYGEHYPL DHFDK*
mutated AA sequence MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE
FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY
ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG
NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA
ASEGDAHASF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG
NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP
ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL
RKQQESLARH LQTYGEHYPL DHFDK*
speed 1.22 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