Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.994554955299878 (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 ENST00000440693
Genbank transcript ID N/A
UniProt peptide A2VDJ0
alteration type single base exchange
alteration region CDS
DNA changes c.1685T>C
cDNA.1737T>C
g.127468T>C
AA changes M562T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 562
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      562KNGDVCKFGTDMQMINFTTGEFQL
mutated  not conserved    562KNGDVCKFGTDTQMINFTTGEFQ
Ptroglodytes  all identical  ENSPTRG00000016527  590-------FGTDMQMINFTTGEFQ
Mmulatta  all identical  ENSMMUG00000009001  498FGTDMQMINFTTGEFQ
Fcatus  no alignment  ENSFCAG00000003011  n/a
Mmusculus  all identical  ENSMUSG00000033767  655-------FGTDMQMVNLSTGEFQ
Ggallus  all conserved  ENSGALG00000009230  655FGINVEAINFTTTEFR
Trubripes  no alignment  ENSTRUG00000008066  n/a
Drerio  not conserved  ENSDARG00000079434  656KWFNISPLSVNITTTEFL
Dmelanogaster  no alignment  FBgn0034060  n/a
Celegans  no alignment  C27F2.8  n/a
Xtropicalis  not conserved  ENSXETG00000001833  560YGVNEQAFDVTTAEFR
protein features
start (aa)end (aa)featuredetails 
41869TOPO_DOMExtracellular (Potential).lost
593593CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 4581 / 4581
position (AA) of stopcodon in wt / mu AA sequence 1527 / 1527
position of stopcodon in wt / mu cDNA 4633 / 4633
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 4358
theoretical NMD boundary in CDS 4255
length of CDS 4581
coding sequence (CDS) position 1685
cDNA position
(for ins/del: last normal base / first normal base)		 1737
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 CTGCAAGTTTGGCACTGATATGCAGATGATTAATTTCACAA
altered cDNA sequence snippet CTGCAAGTTTGGCACTGATACGCAGATGATTAATTTCACAA
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 KNGDVCKFGT DMQMINFTTG EFQLTEACPY LGTHSEESRF GILHLHLQPL
EMKRVGVVFT PADYGKVTSL ILIRNNLTVI DMIGVEGFGA RELLKVGGRL PGAGGSLRFK
VPESTLMDCR RQLKDSKQIL SITKNFKVEN IGPLPITVSS LKINGYNCQG YGFEVLDCHQ
FSLDPNTSRD ISIVFTPDFT SSWVIRDLSL VTAADLEFRF TLNVTLPHHL LPLCADVVPG
PSWEESFWRL TVFFVSLSLL GVILIAFQQA QYILMEFMKT RQRQNASSSS QQNNGPMDVI
SPHSYKSNCK NFLDTYGPSD KGRGKNCLPV NTPQSRIQNA AKRSPATYGH SQKKHKCSVY
YSKHKTSTAA ASSTSTTTEE KQTSPLGSSL PAAKEDICTD AMRENWISLR YASGINVNLQ
KNLTLPKNLL NKEENTLKNT IVFSNPSSEC SMKEGIQTCM FPKETDIKTS ENTAEFKERE
LCPLKTSKKL PENHLPRNSP QYHQPDLPEI SRKNNGNNQQ VPVKNEVDHC ENLKKVDTKP
SSEKKIHKTS REDMFSEKQD IPFVEQEDPY RKKKLQEKRE GNLQNLNWSK SRTCRKNKKR
GVAPVSRPPE QSDLKLVCSD FERSELSSDI NVRSWCIQES TREVCKADAE IASSLPAAQR
EAEGYYQKPE KKCVDKFCSD SSSDCGSSSG SVRASRGSWG SWSSTSSSDG DKKPMVDAQH
FLPAGDSVSQ NDFPSEAPIS LNLSHNICNP MTVNSLPQYA EPSCPSLPAG PTGVEEDKGL
YSPGDLWPTP PVCVTSSLNC TLENGVPCVI QESAPVHNSF IDWSATCEGQ FSSAYCPLEL
NDYNAFPEEN MNYANGFPCP ADVQTDFIDH NSQSTWNTPP NMPAAWGHAS FISSPPYLTS
TRSLSPMSGL FGSIWAPQSD VYENCCPINP TTEHSTHMEN QAVVCKEYYP GFNPFRAYMN
LDIWTTTANR NANFPLSRDS SYCGNV*
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 KNGDVCKFGT DTQMINFTTG EFQLTEACPY LGTHSEESRF GILHLHLQPL
EMKRVGVVFT PADYGKVTSL ILIRNNLTVI DMIGVEGFGA RELLKVGGRL PGAGGSLRFK
VPESTLMDCR RQLKDSKQIL SITKNFKVEN IGPLPITVSS LKINGYNCQG YGFEVLDCHQ
FSLDPNTSRD ISIVFTPDFT SSWVIRDLSL VTAADLEFRF TLNVTLPHHL LPLCADVVPG
PSWEESFWRL TVFFVSLSLL GVILIAFQQA QYILMEFMKT RQRQNASSSS QQNNGPMDVI
SPHSYKSNCK NFLDTYGPSD KGRGKNCLPV NTPQSRIQNA AKRSPATYGH SQKKHKCSVY
YSKHKTSTAA ASSTSTTTEE KQTSPLGSSL PAAKEDICTD AMRENWISLR YASGINVNLQ
KNLTLPKNLL NKEENTLKNT IVFSNPSSEC SMKEGIQTCM FPKETDIKTS ENTAEFKERE
LCPLKTSKKL PENHLPRNSP QYHQPDLPEI SRKNNGNNQQ VPVKNEVDHC ENLKKVDTKP
SSEKKIHKTS REDMFSEKQD IPFVEQEDPY RKKKLQEKRE GNLQNLNWSK SRTCRKNKKR
GVAPVSRPPE QSDLKLVCSD FERSELSSDI NVRSWCIQES TREVCKADAE IASSLPAAQR
EAEGYYQKPE KKCVDKFCSD SSSDCGSSSG SVRASRGSWG SWSSTSSSDG DKKPMVDAQH
FLPAGDSVSQ NDFPSEAPIS LNLSHNICNP MTVNSLPQYA EPSCPSLPAG PTGVEEDKGL
YSPGDLWPTP PVCVTSSLNC TLENGVPCVI QESAPVHNSF IDWSATCEGQ FSSAYCPLEL
NDYNAFPEEN MNYANGFPCP ADVQTDFIDH NSQSTWNTPP NMPAAWGHAS FISSPPYLTS
TRSLSPMSGL FGSIWAPQSD VYENCCPINP TTEHSTHMEN QAVVCKEYYP GFNPFRAYMN
LDIWTTTANR NANFPLSRDS SYCGNV*
speed 0.78 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