Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999980470270238 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM014523)
  • known disease mutation: rs4539 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:62459885C>GN/A show variant in all transcripts   IGV
HGNC symbol BSCL2
Ensembl transcript ID ENST00000407022
Genbank transcript ID NM_032667
UniProt peptide Q96G97
alteration type single base exchange
alteration region CDS
DNA changes c.634G>C
cDNA.881G>C
g.17433G>C
AA changes A212P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 212
frameshift no
known variant Reference ID: rs137852971
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs4539 (pathogenic for Congenital generalized lipodystrophy type 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM014523)

known disease mutation at this position, please check HGMD for details (HGMD ID CM014523)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014523)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1311
3.1470.995
(flanking)-1.3170.352
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased17444wt: 0.63 / mu: 0.89wt: CTGTATGGAGCCTACCTCCGCATCCACGCGCACTTCACTGG
mu: CTGTATGGACCCTACCTCCGCATCCACGCGCACTTCACTGG		 ccgc|ATCC
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      212EIHSKRIQLYGAYLRIHAHFTGLR
mutated  not conserved    212EIHSKRIQLYGPYLRIHAHFTGL
Ptroglodytes  all identical  ENSPTRG00000003784  276EIHSKRIQLYGAYLRIHAHFTGL
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000018428  206EIHSKRVQMYGAYLRIHAHFTGL
Mmusculus  all identical  ENSMUSG00000071657  272EIHSKRIQMYGAYLRIHAHFTGL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037008  247EIQSRRVQIYSAQLRIHAYFTGV
Dmelanogaster  not conserved  FBgn0040336  232IQSQKIQFYTVTLHIVADFTGL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000006021  196QIQSVRIQIYSAELRVHAYFTGLS
protein features
start (aa)end (aa)featuredetails 
48242TOPO_DOMLumenal (Potential).lost
242242CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264398TOPO_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 1197 / 1197
position (AA) of stopcodon in wt / mu AA sequence 399 / 399
position of stopcodon in wt / mu cDNA 1444 / 1444
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 248 / 248
chromosome 11
strand -1
last intron/exon boundary 1290
theoretical NMD boundary in CDS 992
length of CDS 1197
coding sequence (CDS) position 634
cDNA position
(for ins/del: last normal base / first normal base)		 881
gDNA position
(for ins/del: last normal base / first normal base)		 17433
chromosomal position
(for ins/del: last normal base / first normal base)		 62459885
original gDNA sequence snippet AGCGCATCCAGCTGTATGGAGCCTACCTCCGCATCCACGCG
altered gDNA sequence snippet AGCGCATCCAGCTGTATGGACCCTACCTCCGCATCCACGCG
original cDNA sequence snippet AGCGCATCCAGCTGTATGGAGCCTACCTCCGCATCCACGCG
altered cDNA sequence snippet AGCGCATCCAGCTGTATGGACCCTACCTCCGCATCCACGCG
wildtype AA sequence MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG SFYYSYMPTV
SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL MYGQPYRVTL ELELPESPVN
QDLGMFLVTI SCYTRGGRII STSSRSVMLH YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE
VELYADYREN SYVPTTGAII EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA
SNFTFLSVIV LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG SWEDAALLTE
ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS*
mutated AA sequence MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG SFYYSYMPTV
SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL MYGQPYRVTL ELELPESPVN
QDLGMFLVTI SCYTRGGRII STSSRSVMLH YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE
VELYADYREN SYVPTTGAII EIHSKRIQLY GPYLRIHAHF TGLRYLLYNF PMTCAFIGVA
SNFTFLSVIV LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG SWEDAALLTE
ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS*
speed 1.07 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