Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.926983275484422 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:149906413T>CN/A show variant in all transcripts   IGV
HGNC symbol MTMR11
Ensembl transcript ID ENST00000406732
Genbank transcript ID N/A
UniProt peptide A4FU01
alteration type single base exchange
alteration region CDS
DNA changes c.391A>G
cDNA.726A>G
g.2379A>G
AA changes M131V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 131
frameshift no
known variant Reference ID: rs11205303
databasehomozygous (C/C)heterozygousallele carriers
1000G179787966
ExAC74591784925308
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.71
0.5261
(flanking)1.3431
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased2372wt: 0.9736 / mu: 0.9776 (marginal change - not scored)wt: GGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCCA
mu: GGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCA		 gcag|GTGA
Acc marginally increased2370wt: 0.8364 / mu: 0.8916 (marginal change - not scored)wt: ATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTC
mu: ATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTC		 ctgc|AGGT
Acc increased2371wt: 0.27 / mu: 0.36wt: TGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGTCC
mu: TGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGTCC		 tgca|GGTG
Acc marginally increased2369wt: 0.2126 / mu: 0.2449 (marginal change - not scored)wt: GATGGAATGTCCTTTCCTCTGCAGGTGACCATGGCCATTGT
mu: GATGGAATGTCCTTTCCTCTGCAGGTGACCGTGGCCATTGT		 tctg|CAGG
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      131GGLEPQAFQVTMAIVQARAQSNQA
mutated  all conserved    131GLEPQAFQVTVAIVQARAQSNQ
Ptroglodytes  all identical  ENSPTRG00000001244  159GLEPQAFQVTMAIVQARAQSNQ
Mmulatta  all identical  ENSMMUG00000007246  87GGLEPQAFQVTMAIVQARAQSNP
Fcatus  all identical  ENSFCAG00000010108  87GGLEPQAFQVTMAIVQARAQNSQ
Mmusculus  all identical  ENSMUSG00000045934  164GLAPQAFQVTMAIIQARAQSSQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000069755  161ITYTIAKTYQPLKP
Dmelanogaster  not conserved  FBgn0030582  243SDQGKLIASALVRFAYPMRHDLSFAYAHR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
165165CONFLICTR -> G (in Ref. 2; BAG60917).might get lost (downstream of altered splice site)
196639DOMAINMyotubularin phosphatase.might get lost (downstream of altered splice site)
263263CONFLICTH -> R (in Ref. 2; BAG53406).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1065 / 1065
position (AA) of stopcodon in wt / mu AA sequence 355 / 355
position of stopcodon in wt / mu cDNA 1400 / 1400
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 336 / 336
chromosome 1
strand -1
last intron/exon boundary 2026
theoretical NMD boundary in CDS 1640
length of CDS 1065
coding sequence (CDS) position 391
cDNA position
(for ins/del: last normal base / first normal base)		 726
gDNA position
(for ins/del: last normal base / first normal base)		 2379
chromosomal position
(for ins/del: last normal base / first normal base)		 149906413
original gDNA sequence snippet CCTTTCCTCTGCAGGTGACCATGGCCATTGTCCAAGCCAGA
altered gDNA sequence snippet CCTTTCCTCTGCAGGTGACCGTGGCCATTGTCCAAGCCAGA
original cDNA sequence snippet CTCAGGCTTTTCAGGTGACCATGGCCATTGTCCAAGCCAGA
altered cDNA sequence snippet CTCAGGCTTTTCAGGTGACCGTGGCCATTGTCCAAGCCAGA
wildtype AA sequence MPEPRSRQPS SCLASRCLPG EQILAWAPGV RKGLEPELSG TLICTNFRVT FQPCGWQWNQ
DTPLNSEYDF ALVNIGRLEA VSGLSRVQLL RPGSLHKFIP EEILIHGRDF RLLRVGFEAG
GLEPQAFQVT MAIVQARAQS NQAQQYSGIT LSKAGQGSGS RKPPIPLMET AEDWETERKK
QAARGWRVST VNERFDVATS LPRYFWVPNR ILDSEVRRAF GHFHQGRGPR LSWHHPGGSD
LLRCGGFYTA SDPNKEDIRA VELMLQAGHS DVVLVDTMDE LPSLADVQLA HLRLRALCLP
DSSVAEDKWL SALEGTRWLD YVRACLRKAS DISVLVTSRV RSVILQGSGV SPLP*
mutated AA sequence MPEPRSRQPS SCLASRCLPG EQILAWAPGV RKGLEPELSG TLICTNFRVT FQPCGWQWNQ
DTPLNSEYDF ALVNIGRLEA VSGLSRVQLL RPGSLHKFIP EEILIHGRDF RLLRVGFEAG
GLEPQAFQVT VAIVQARAQS NQAQQYSGIT LSKAGQGSGS RKPPIPLMET AEDWETERKK
QAARGWRVST VNERFDVATS LPRYFWVPNR ILDSEVRRAF GHFHQGRGPR LSWHHPGGSD
LLRCGGFYTA SDPNKEDIRA VELMLQAGHS DVVLVDTMDE LPSLADVQLA HLRLRALCLP
DSSVAEDKWL SALEGTRWLD YVRACLRKAS DISVLVTSRV RSVILQGSGV SPLP*
speed 1.03 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