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 ENST00000409663
Genbank transcript ID NM_015196
UniProt peptide A2VDJ0
alteration type single base exchange
alteration region CDS
DNA changes c.1934T>C
cDNA.1986T>C
g.127468T>C
AA changes M645T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 645
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      645VHLLHRWFGTDMQMINFTTGEFQL
mutated  not conserved    645VHLLHRWFGTDTQMINFTTGEFQ
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  646LELLSKWFNISPLSLN
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 4830 / 4830
position (AA) of stopcodon in wt / mu AA sequence 1610 / 1610
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 53 / 53
chromosome 4
strand 1
last intron/exon boundary 4607
theoretical NMD boundary in CDS 4504
length of CDS 4830
coding sequence (CDS) position 1934
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 TCKATSCDSG
IIEDVKKTTH TPTLKACLFS SVAQGYFRMD SSATQFHIET HENTSGLWSI WYRNHFDRSV
VLNDVFLSKE TKHMLKILNF TGPLFLPPGC WNIFSLKLAV KDIAINLFTN VFLTTNIGAI
FAIPLQIYSA PTKEGSLGFE VIAHCGMHYF MGKSKAGNPN WNGSLSLDQS TWNVDSELAN
KLYERWKKYK NGDVCKRNVL GTTRFAHLKK SKESESFVFF LPRLIAEPGL MLNFSATALR
SRMIKYFVVQ NPSSWPVSLQ LLPLSLYPKP EALVHLLHRW FGTDMQMINF TTGEFQLTEA
CPYLGTHSEE SRFGILHLHL QPLEMKRVGV VFTPADYGKV TSLILIRNNL TVIDMIGVEG
FGARELLKVG GRLPGAGGSL RFKVPESTLM DCRRQLKDSK QILSITKNFK VENIGPLPIT
VSSLKINGYN CQGYGFEVLD CHQFSLDPNT SRDISIVFTP DFTSSWVIRD LSLVTAADLE
FRFTLNVTLP HHLLPLCADV VPGPSWEESF WRLTVFFVSL SLLGVILIAF QQAQYILMEF
MKTRQRQNAS SSSQQNNGPM DVISPHSYKS NCKNFLDTYG PSDKGRGKNC LPVNTPQSRI
QNAAKRSPAT YGHSQKKHKC SVYYSKHKTS TAAASSTSTT TEEKQTSPLG SSLPAAKEDI
CTDAMRENWI SLRYASGINV NLQKNLTLPK NLLNKEENTL KNTIVFSNPS SECSMKEGIQ
TCMFPKETDI KTSENTAEFK ERELCPLKTS KKLPENHLPR NSPQYHQPDL PEISRKNNGN
NQQVPVKNEV DHCENLKKVD TKPSSEKKIH KTSREDMFSE KQDIPFVEQE DPYRKKKLQE
KREGNLQNLN WSKSRTCRKN KKRGVAPVSR PPEQSDLKLV CSDFERSELS SDINVRSWCI
QESTREVCKA DAEIASSLPA AQREAEGYYQ KPEKKCVDKF CSDSSSDCGS SSGSVRASRG
SWGSWSSTSS SDGDKKPMVD AQHFLPAGDS VSQNDFPSEA PISLNLSHNI CNPMTVNSLP
QYAEPSCPSL PAGPTGVEED KGLYSPGDLW PTPPVCVTSS LNCTLENGVP CVIQESAPVH
NSFIDWSATC EGQFSSAYCP LELNDYNAFP EENMNYANGF PCPADVQTDF IDHNSQSTWN
TPPNMPAAWG HASFISSPPY LTSTRSLSPM SGLFGSIWAP QSDVYENCCP INPTTEHSTH
MENQAVVCKE YYPGFNPFRA YMNLDIWTTT ANRNANFPLS RDSSYCGNV*
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 TCKATSCDSG
IIEDVKKTTH TPTLKACLFS SVAQGYFRMD SSATQFHIET HENTSGLWSI WYRNHFDRSV
VLNDVFLSKE TKHMLKILNF TGPLFLPPGC WNIFSLKLAV KDIAINLFTN VFLTTNIGAI
FAIPLQIYSA PTKEGSLGFE VIAHCGMHYF MGKSKAGNPN WNGSLSLDQS TWNVDSELAN
KLYERWKKYK NGDVCKRNVL GTTRFAHLKK SKESESFVFF LPRLIAEPGL MLNFSATALR
SRMIKYFVVQ NPSSWPVSLQ LLPLSLYPKP EALVHLLHRW FGTDTQMINF TTGEFQLTEA
CPYLGTHSEE SRFGILHLHL QPLEMKRVGV VFTPADYGKV TSLILIRNNL TVIDMIGVEG
FGARELLKVG GRLPGAGGSL RFKVPESTLM DCRRQLKDSK QILSITKNFK VENIGPLPIT
VSSLKINGYN CQGYGFEVLD CHQFSLDPNT SRDISIVFTP DFTSSWVIRD LSLVTAADLE
FRFTLNVTLP HHLLPLCADV VPGPSWEESF WRLTVFFVSL SLLGVILIAF QQAQYILMEF
MKTRQRQNAS SSSQQNNGPM DVISPHSYKS NCKNFLDTYG PSDKGRGKNC LPVNTPQSRI
QNAAKRSPAT YGHSQKKHKC SVYYSKHKTS TAAASSTSTT TEEKQTSPLG SSLPAAKEDI
CTDAMRENWI SLRYASGINV NLQKNLTLPK NLLNKEENTL KNTIVFSNPS SECSMKEGIQ
TCMFPKETDI KTSENTAEFK ERELCPLKTS KKLPENHLPR NSPQYHQPDL PEISRKNNGN
NQQVPVKNEV DHCENLKKVD TKPSSEKKIH KTSREDMFSE KQDIPFVEQE DPYRKKKLQE
KREGNLQNLN WSKSRTCRKN KKRGVAPVSR PPEQSDLKLV CSDFERSELS SDINVRSWCI
QESTREVCKA DAEIASSLPA AQREAEGYYQ KPEKKCVDKF CSDSSSDCGS SSGSVRASRG
SWGSWSSTSS SDGDKKPMVD AQHFLPAGDS VSQNDFPSEA PISLNLSHNI CNPMTVNSLP
QYAEPSCPSL PAGPTGVEED KGLYSPGDLW PTPPVCVTSS LNCTLENGVP CVIQESAPVH
NSFIDWSATC EGQFSSAYCP LELNDYNAFP EENMNYANGF PCPADVQTDF IDHNSQSTWN
TPPNMPAAWG HASFISSPPY LTSTRSLSPM SGLFGSIWAP QSDVYENCCP INPTTEHSTH
MENQAVVCKE YYPGFNPFRA YMNLDIWTTT ANRNANFPLS RDSSYCGNV*
speed 1.01 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