Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999794348156014 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM105035)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183027542T>GN/A show variant in all transcripts   IGV
HGNC symbol MCF2L2
Ensembl transcript ID ENST00000414362
Genbank transcript ID N/A
UniProt peptide Q86YR7
alteration type single base exchange
alteration region CDS
DNA changes c.1075A>C
cDNA.1199A>C
g.119025A>C
AA changes I359L Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 359
frameshift no
known variant Reference ID: rs7639705
databasehomozygous (G/G)heterozygousallele carriers
1000G31410471361
ExAC43802236026740

known disease mutation at this position, please check HGMD for details (HGMD ID CM105035)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3750.965
2.7560.966
(flanking)-0.6560.753
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      359GIGDSVMHVEQILKEHKKLEEKSQ
mutated  all conserved    359GIGDSVMHVEQLLKEHKKLEEKS
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000001456  276GIGDSVMHVEQLLKEHKKLEEKS
Fcatus  all conserved  ENSFCAG00000014298  358DIGDSVIRVEQLLKEHKKLEEKG
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000003813  358DIGDCVARVEYLLKELKSLEEKA
Drerio  all conserved  ENSDARG00000079742  361DTGDCVARVEQLLGELKT
Dmelanogaster  no alignment  FBgn0050440  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
323428REPEATSpectrin.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1887 / 1887
position (AA) of stopcodon in wt / mu AA sequence 629 / 629
position of stopcodon in wt / mu cDNA 2011 / 2011
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 125 / 125
chromosome 3
strand -1
last intron/exon boundary 1987
theoretical NMD boundary in CDS 1812
length of CDS 1887
coding sequence (CDS) position 1075
cDNA position
(for ins/del: last normal base / first normal base)		 1199
gDNA position
(for ins/del: last normal base / first normal base)		 119025
chromosomal position
(for ins/del: last normal base / first normal base)		 183027542
original gDNA sequence snippet GCGTGATGCACGTGGAGCAGATTCTTAAGGAACACAAAAAA
altered gDNA sequence snippet GCGTGATGCACGTGGAGCAGCTTCTTAAGGAACACAAAAAA
original cDNA sequence snippet GCGTGATGCACGTGGAGCAGATTCTTAAGGAACACAAAAAA
altered cDNA sequence snippet GCGTGATGCACGTGGAGCAGCTTCTTAAGGAACACAAAAAA
wildtype AA sequence MLSCLKEEMP PQELTRRLAT VITHVDEIMQ QEVRPLMAVE IIEQLHRQFA ILSGGRGEDG
APIITFPEFS GFKHIPDEDF LNVMTYLTSI PSVEAASIGF IVVIDRRRDK WSSVKASLTR
IAVAFPGNLQ LIFILRPSRF IQRTFTDIGI KYYRNEFKTK VPIIMVNSVS DLHGYIDKSQ
LTRELGGTLE YRHGQWVNHR TAIENFALTL KTTAQMLQTF GSCLATAELP RSMLSTEDLL
MSHTRQRDKL QDELKLLGKQ GTTLLSCIQE PATKCPNSKL NLNQLENVTT MERLLVQLDE
TEKAFSHFWS EHHLKLNQCL QLQHFEHDFC KAKLALDNLL EEQAEFTGIG DSVMHVEQIL
KEHKKLEEKS QEPLEKAQLL ALVGDQLIQS HHYAADAIRP RCVELRHLCD DFINGNKKKW
DILGKSLEFH RQLDKVSQWC EAGIYLLASQ AVDKCQSREG VDIALNDIAT FLGTVKEYPL
LSPKEFYNEF ELLLTLDAKA KAQKVLQRLD DVQEIFHKRQ VSLMKLAAKQ TRPVQPVAPH
PESSPKWVSS KTSQPSTSVP LARPLRTSEE PYTETELNSR GKEDDETKFE VKSEEIFESH
HERGNPELEQ QARLGDLSPR RYSSQYFK*
mutated AA sequence MLSCLKEEMP PQELTRRLAT VITHVDEIMQ QEVRPLMAVE IIEQLHRQFA ILSGGRGEDG
APIITFPEFS GFKHIPDEDF LNVMTYLTSI PSVEAASIGF IVVIDRRRDK WSSVKASLTR
IAVAFPGNLQ LIFILRPSRF IQRTFTDIGI KYYRNEFKTK VPIIMVNSVS DLHGYIDKSQ
LTRELGGTLE YRHGQWVNHR TAIENFALTL KTTAQMLQTF GSCLATAELP RSMLSTEDLL
MSHTRQRDKL QDELKLLGKQ GTTLLSCIQE PATKCPNSKL NLNQLENVTT MERLLVQLDE
TEKAFSHFWS EHHLKLNQCL QLQHFEHDFC KAKLALDNLL EEQAEFTGIG DSVMHVEQLL
KEHKKLEEKS QEPLEKAQLL ALVGDQLIQS HHYAADAIRP RCVELRHLCD DFINGNKKKW
DILGKSLEFH RQLDKVSQWC EAGIYLLASQ AVDKCQSREG VDIALNDIAT FLGTVKEYPL
LSPKEFYNEF ELLLTLDAKA KAQKVLQRLD DVQEIFHKRQ VSLMKLAAKQ TRPVQPVAPH
PESSPKWVSS KTSQPSTSVP LARPLRTSEE PYTETELNSR GKEDDETKFE VKSEEIFESH
HERGNPELEQ QARLGDLSPR RYSSQYFK*
speed 0.20 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