Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.960585142487765 (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) chr4:154514965T>CN/A show variant in all transcripts   IGV
HGNC symbol TMEM131L
Ensembl transcript ID ENST00000409959
Genbank transcript ID NM_001131007
UniProt peptide A2VDJ0
alteration type single base exchange
alteration region CDS
DNA changes c.1937T>C
cDNA.1986T>C
g.127468T>C
AA changes M646T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 646
frameshift no
known variant Reference ID: rs17370297
databasehomozygous (C/C)heterozygousallele carriers
1000G1308731003
ExAC52342229927533
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5770.988
0.8020.988
(flanking)0.090.987
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 increased127468wt: 0.2177 / mu: 0.2222 (marginal change - not scored)wt: TTATAGGTTTGGCACTGATATGCAGATGATTAATTTCACAA
mu: TTATAGGTTTGGCACTGATACGCAGATGATTAATTTCACAA		 atat|GCAG
Donor increased127468wt: 0.23 / mu: 0.60wt: TGATATGCAGATGAT
mu: TGATACGCAGATGAT		 ATAT|gcag
Donor marginally increased127471wt: 0.6745 / mu: 0.6849 (marginal change - not scored)wt: TATGCAGATGATTAA
mu: TACGCAGATGATTAA		 TGCA|gatg
Donor marginally increased127463wt: 0.9302 / mu: 0.9782 (marginal change - not scored)wt: GGCACTGATATGCAG
mu: GGCACTGATACGCAG		 CACT|gata
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      646VHLLHRWFGTDMQMINFTTGEFQL
mutated  not conserved    646VHLLHRWFGTDTQMINFTTGEFQ
Ptroglodytes  all identical  ENSPTRG00000016527  581VHLFHRWFGTDMQMINFTTGEFQ
Mmulatta  all identical  ENSMMUG00000009001  498VHLLHRWFGTDMQMINFTTGEFQ
Fcatus  all identical  ENSFCAG00000003011  498VRLLHKWFGTDMQMINFTTGEFQ
Mmusculus  all identical  ENSMUSG00000033767  645VRLLHKWFGTDMQMVNLSTGEFQ
Ggallus  all conserved  ENSGALG00000009230  655LSLLSKWFGINVEAINF
Trubripes  not conserved  ENSTRUG00000008066  646LELLSKWFNISPLSL
Drerio  not conserved  ENSDARG00000079434  658LDMLTKWFNISPLSVNITTTEFL
Dmelanogaster  no alignment  FBgn0034060  n/a
Celegans  not conserved  C27F2.8  918VELMRPNLVSELTDHVE
Xtropicalis  not conserved  ENSXETG00000001833  560LSMLSKWYGVNEQAFDVTTAEFR
protein features
start (aa)end (aa)featuredetails 
41869TOPO_DOMExtracellular (Potential).lost
709709CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
846846CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
870890TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
8911609TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
910913COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
11221122MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13021331COMPBIASSer-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4833 / 4833
position (AA) of stopcodon in wt / mu AA sequence 1611 / 1611
position of stopcodon in wt / mu cDNA 4882 / 4882
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 50 / 50
chromosome 4
strand 1
last intron/exon boundary 4607
theoretical NMD boundary in CDS 4507
length of CDS 4833
coding sequence (CDS) position 1937
cDNA position
(for ins/del: last normal base / first normal base)		 1986
gDNA position
(for ins/del: last normal base / first normal base)		 127468
chromosomal position
(for ins/del: last normal base / first normal base)		 154514965
original gDNA sequence snippet TTATAGGTTTGGCACTGATATGCAGATGATTAATTTCACAA
altered gDNA sequence snippet TTATAGGTTTGGCACTGATACGCAGATGATTAATTTCACAA
original cDNA sequence snippet CAGATGGTTTGGCACTGATATGCAGATGATTAATTTCACAA
altered cDNA sequence snippet CAGATGGTTTGGCACTGATACGCAGATGATTAATTTCACAA
wildtype AA sequence MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKAATSCDS
GIIEDVKKTT HTPTLKACLF SSVAQGYFRM DSSATQFHIE THENTSGLWS IWYRNHFDRS
VVLNDVFLSK ETKHMLKILN FTGPLFLPPG CWNIFSLKLA VKDIAINLFT NVFLTTNIGA
IFAIPLQIYS APTKEGSLGF EVIAHCGMHY FMGKSKAGNP NWNGSLSLDQ STWNVDSELA
NKLYERWKKY KNGDVCKRNV LGTTRFAHLK KSKESESFVF FLPRLIAEPG LMLNFSATAL
RSRMIKYFVV QNPSSWPVSL QLLPLSLYPK PEALVHLLHR WFGTDMQMIN FTTGEFQLTE
ACPYLGTHSE ESRFGILHLH LQPLEMKRVG VVFTPADYGK VTSLILIRNN LTVIDMIGVE
GFGARELLKV GGRLPGAGGS LRFKVPESTL MDCRRQLKDS KQILSITKNF KVENIGPLPI
TVSSLKINGY NCQGYGFEVL DCHQFSLDPN TSRDISIVFT PDFTSSWVIR DLSLVTAADL
EFRFTLNVTL PHHLLPLCAD VVPGPSWEES FWRLTVFFVS LSLLGVILIA FQQAQYILME
FMKTRQRQNA SSSSQQNNGP MDVISPHSYK SNCKNFLDTY GPSDKGRGKN CLPVNTPQSR
IQNAAKRSPA TYGHSQKKHK CSVYYSKHKT STAAASSTST TTEEKQTSPL GSSLPAAKED
ICTDAMRENW ISLRYASGIN VNLQKNLTLP KNLLNKEENT LKNTIVFSNP SSECSMKEGI
QTCMFPKETD IKTSENTAEF KERELCPLKT SKKLPENHLP RNSPQYHQPD LPEISRKNNG
NNQQVPVKNE VDHCENLKKV DTKPSSEKKI HKTSREDMFS EKQDIPFVEQ EDPYRKKKLQ
EKREGNLQNL NWSKSRTCRK NKKRGVAPVS RPPEQSDLKL VCSDFERSEL SSDINVRSWC
IQESTREVCK ADAEIASSLP AAQREAEGYY QKPEKKCVDK FCSDSSSDCG SSSGSVRASR
GSWGSWSSTS SSDGDKKPMV DAQHFLPAGD SVSQNDFPSE APISLNLSHN ICNPMTVNSL
PQYAEPSCPS LPAGPTGVEE DKGLYSPGDL WPTPPVCVTS SLNCTLENGV PCVIQESAPV
HNSFIDWSAT CEGQFSSAYC PLELNDYNAF PEENMNYANG FPCPADVQTD FIDHNSQSTW
NTPPNMPAAW GHASFISSPP YLTSTRSLSP MSGLFGSIWA PQSDVYENCC PINPTTEHST
HMENQAVVCK EYYPGFNPFR AYMNLDIWTT TANRNANFPL SRDSSYCGNV *
mutated AA sequence MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKAATSCDS
GIIEDVKKTT HTPTLKACLF SSVAQGYFRM DSSATQFHIE THENTSGLWS IWYRNHFDRS
VVLNDVFLSK ETKHMLKILN FTGPLFLPPG CWNIFSLKLA VKDIAINLFT NVFLTTNIGA
IFAIPLQIYS APTKEGSLGF EVIAHCGMHY FMGKSKAGNP NWNGSLSLDQ STWNVDSELA
NKLYERWKKY KNGDVCKRNV LGTTRFAHLK KSKESESFVF FLPRLIAEPG LMLNFSATAL
RSRMIKYFVV QNPSSWPVSL QLLPLSLYPK PEALVHLLHR WFGTDTQMIN FTTGEFQLTE
ACPYLGTHSE ESRFGILHLH LQPLEMKRVG VVFTPADYGK VTSLILIRNN LTVIDMIGVE
GFGARELLKV GGRLPGAGGS LRFKVPESTL MDCRRQLKDS KQILSITKNF KVENIGPLPI
TVSSLKINGY NCQGYGFEVL DCHQFSLDPN TSRDISIVFT PDFTSSWVIR DLSLVTAADL
EFRFTLNVTL PHHLLPLCAD VVPGPSWEES FWRLTVFFVS LSLLGVILIA FQQAQYILME
FMKTRQRQNA SSSSQQNNGP MDVISPHSYK SNCKNFLDTY GPSDKGRGKN CLPVNTPQSR
IQNAAKRSPA TYGHSQKKHK CSVYYSKHKT STAAASSTST TTEEKQTSPL GSSLPAAKED
ICTDAMRENW ISLRYASGIN VNLQKNLTLP KNLLNKEENT LKNTIVFSNP SSECSMKEGI
QTCMFPKETD IKTSENTAEF KERELCPLKT SKKLPENHLP RNSPQYHQPD LPEISRKNNG
NNQQVPVKNE VDHCENLKKV DTKPSSEKKI HKTSREDMFS EKQDIPFVEQ EDPYRKKKLQ
EKREGNLQNL NWSKSRTCRK NKKRGVAPVS RPPEQSDLKL VCSDFERSEL SSDINVRSWC
IQESTREVCK ADAEIASSLP AAQREAEGYY QKPEKKCVDK FCSDSSSDCG SSSGSVRASR
GSWGSWSSTS SSDGDKKPMV DAQHFLPAGD SVSQNDFPSE APISLNLSHN ICNPMTVNSL
PQYAEPSCPS LPAGPTGVEE DKGLYSPGDL WPTPPVCVTS SLNCTLENGV PCVIQESAPV
HNSFIDWSAT CEGQFSSAYC PLELNDYNAF PEENMNYANG FPCPADVQTD FIDHNSQSTW
NTPPNMPAAW GHASFISSPP YLTSTRSLSP MSGLFGSIWA PQSDVYENCC PINPTTEHST
HMENQAVVCK EYYPGFNPFR AYMNLDIWTT TANRNANFPL SRDSSYCGNV *
speed 1.12 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