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 ENST00000439741
Genbank transcript ID NM_001145862
UniProt peptide A4FU01
alteration type single base exchange
alteration region CDS
DNA changes c.475A>G
cDNA.726A>G
g.2379A>G
AA changes M159V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 159
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      159GGLEPQAFQVTMAIVQARAQSNQA
mutated  all conserved    159GGLEPQAFQVTVAIVQARAQSNQ
Ptroglodytes  all identical  ENSPTRG00000001244  159GGLEPQAFQVTMAIVQARAQSNQ
Mmulatta  all identical  ENSMMUG00000007246  87GGLEPQAFQVTMAIVQARAQSNP
Fcatus  all identical  ENSFCAG00000010108  87GGLEPQAFQVTMAIVQARAQNSQ
Mmusculus  all identical  ENSMUSG00000045934  164GGLAPQAFQVTMAIIQARAQSSQ
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 2130 / 2130
position (AA) of stopcodon in wt / mu AA sequence 710 / 710
position of stopcodon in wt / mu cDNA 2381 / 2381
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 252 / 252
chromosome 1
strand -1
last intron/exon boundary 2193
theoretical NMD boundary in CDS 1891
length of CDS 2130
coding sequence (CDS) position 475
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 MWWGGRGQSF NIAPQKEEPE MGSVQENRMP EPRSRQPSSC LASRCLPGEQ ILAWAPGVRK
GLEPELSGTL ICTNFRVTFQ PCGWQWNQDT PLNSEYDFAL VNIGRLEAVS GLSRVQLLRP
GSLHKFIPEE ILIHGRDFRL LRVGFEAGGL EPQAFQVTMA IVQARAQSNQ AQQYSGITLS
KAGQGSGSRK PPIPLMETAE DWETERKKQA ARGWRVSTVN ERFDVATSLP RYFWVPNRIL
DSEVRRAFGH FHQGRGPRLS WHHPGGSDLL RCGGFYTASD PNKEDIRAVE LMLQAGHSDV
VLVDTMDELP SLADVQLAHL RLRALCLPDS SVAEDKWLSA LEGTRWLDYV RACLRKASDI
SVLVTSRVRS VILQERGDRD LNGLLSSLVQ LLSAPEARTL FGFQSLVQRE WVAAGHPFLT
RLGGTGASEE APVFLLFLDC VWQLLQQFPA DFEFSEFFLL ALHDSVRVPD TLTFLRNTPW
ERGKQSGQLN SYTQVYTPGY SQPPAGNSFN LQLSVWDWDL RYSNAQILQF QNPGYDPEHC
PDSWLPRPQP SFMVPGPPSS VWLFSRGALT PLNQLCPWRD SPSLLAVSSR WLPRPAISSE
SLADQEWGLP SHWGACPLPP GLLLPGYLGP QIRLWRRCYL RGRPEVQMGL SAPTISGLQD
ELSHLQELLR KWTPRISPED HSKKRDPHTI LNPTEIAGIL KGRAEGDLG*
mutated AA sequence MWWGGRGQSF NIAPQKEEPE MGSVQENRMP EPRSRQPSSC LASRCLPGEQ ILAWAPGVRK
GLEPELSGTL ICTNFRVTFQ PCGWQWNQDT PLNSEYDFAL VNIGRLEAVS GLSRVQLLRP
GSLHKFIPEE ILIHGRDFRL LRVGFEAGGL EPQAFQVTVA IVQARAQSNQ AQQYSGITLS
KAGQGSGSRK PPIPLMETAE DWETERKKQA ARGWRVSTVN ERFDVATSLP RYFWVPNRIL
DSEVRRAFGH FHQGRGPRLS WHHPGGSDLL RCGGFYTASD PNKEDIRAVE LMLQAGHSDV
VLVDTMDELP SLADVQLAHL RLRALCLPDS SVAEDKWLSA LEGTRWLDYV RACLRKASDI
SVLVTSRVRS VILQERGDRD LNGLLSSLVQ LLSAPEARTL FGFQSLVQRE WVAAGHPFLT
RLGGTGASEE APVFLLFLDC VWQLLQQFPA DFEFSEFFLL ALHDSVRVPD TLTFLRNTPW
ERGKQSGQLN SYTQVYTPGY SQPPAGNSFN LQLSVWDWDL RYSNAQILQF QNPGYDPEHC
PDSWLPRPQP SFMVPGPPSS VWLFSRGALT PLNQLCPWRD SPSLLAVSSR WLPRPAISSE
SLADQEWGLP SHWGACPLPP GLLLPGYLGP QIRLWRRCYL RGRPEVQMGL SAPTISGLQD
ELSHLQELLR KWTPRISPED HSKKRDPHTI LNPTEIAGIL KGRAEGDLG*
speed 0.90 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