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 ENST00000405837
Genbank transcript ID N/A
UniProt peptide Q96G97
alteration type single base exchange
alteration region CDS
DNA changes c.826G>C
cDNA.1323G>C
g.17433G>C
AA changes A276P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 276
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      276EIHSKRIQLYGAYLRIHAHFTGLR
mutated  not conserved    276EIHSKRIQLYGPYLRIHAHFTGL
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 
264398TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1892 / 1892
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 498 / 498
chromosome 11
strand -1
last intron/exon boundary 1738
theoretical NMD boundary in CDS 1190
length of CDS 1395
coding sequence (CDS) position 826
cDNA position
(for ins/del: last normal base / first normal base)		 1323
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 MSTEKVDQKE EAGEKEVCGD QIKGPDKEEE PPAAASHGQG WRPGGRAARN ARPEPGARHP
ALPAMVNDPP VPALLWAQEV GQVLAGRARR LLLQFGVLFC TILLLLWVSV FLYGSFYYSY
MPTVSHLSPV HFYYRTDCDS STTSLCSFPV ANVSLTKGGR DRVLMYGQPY RVTLELELPE
SPVNQDLGMF LVTISCYTRG GRIISTSSRS VMLHYRSDLL QMLDTLVFSS LLLFGFAEQK
QLLEVELYAD YRENSYVPTT GAIIEIHSKR IQLYGAYLRI HAHFTGLRYL LYNFPMTCAF
IGVASNFTFL SVIVLFSYMQ WVWGGIWPRH RFSLQVNIRK RDNSRKEVQR RISAHQPGAG
PEGQEESTPQ SDVTEDGESP EDPSGTEGQL SEEEKPDQQP LSGEEELEPE ASDGSGSWED
AALLTEANLP APAPASASAP VLETLGSSEP AGGALRQRPT CSSS*
mutated AA sequence MSTEKVDQKE EAGEKEVCGD QIKGPDKEEE PPAAASHGQG WRPGGRAARN ARPEPGARHP
ALPAMVNDPP VPALLWAQEV GQVLAGRARR LLLQFGVLFC TILLLLWVSV FLYGSFYYSY
MPTVSHLSPV HFYYRTDCDS STTSLCSFPV ANVSLTKGGR DRVLMYGQPY RVTLELELPE
SPVNQDLGMF LVTISCYTRG GRIISTSSRS VMLHYRSDLL QMLDTLVFSS LLLFGFAEQK
QLLEVELYAD YRENSYVPTT GAIIEIHSKR IQLYGPYLRI HAHFTGLRYL LYNFPMTCAF
IGVASNFTFL SVIVLFSYMQ WVWGGIWPRH RFSLQVNIRK RDNSRKEVQR RISAHQPGAG
PEGQEESTPQ SDVTEDGESP EDPSGTEGQL SEEEKPDQQP LSGEEELEPE ASDGSGSWED
AALLTEANLP APAPASASAP VLETLGSSEP AGGALRQRPT CSSS*
speed 1.08 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