Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 6.48296931947906e-06 (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) chr6:71238105A>GN/A show variant in all transcripts   IGV
HGNC symbol FAM135A
Ensembl transcript ID ENST00000361499
Genbank transcript ID NM_001105531
UniProt peptide Q9P2D6
alteration type single base exchange
alteration region CDS
DNA changes c.3137A>G
cDNA.3481A>G
g.115462A>G
AA changes D1046G Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1046
frameshift no
known variant Reference ID: rs2747701
databasehomozygous (G/G)heterozygousallele carriers
1000G4038931296
ExAC11472982321295
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.8851
3.3290.994
(flanking)-1.7990
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased115459wt: 0.8212 / mu: 0.8316 (marginal change - not scored)wt: AGAAGAGGATGGTTC
mu: AGAAGAGGGTGGTTC		 AAGA|ggat
Donor gained1154560.46mu: AGAAGAAGAGGGTGG AAGA|agag
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1046SSVPYFSVEEEDGSEDGVHLIVCV
mutated  not conserved    1046SSVPYFSVEEEGGSEDGVHLIVC
Ptroglodytes  all identical  ENSPTRG00000018330  1046SSVPYFSVEEEDGSEDGVHLIVC
Mmulatta  all identical  ENSMMUG00000009060  1028SSVPYFSIEEEDGSEDGVHL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026153  1233SSAPYFSMDEEDGSEDGVHLIVC
Ggallus  all identical  ENSGALG00000015969  1232SSVPYFSMEEDDCSEEGIHLIVC
Trubripes  all conserved  ENSTRUG00000016258  1080SLEDDECCEEGIHLIVC
Drerio  all conserved  ENSDARG00000059843  1065EDENCDDGIHLIVC
Dmelanogaster  no homologue    
Celegans  not conserved  C09D4.4  609TAGPVCTPIKSSLVIGDPVVRSKNKTHLVVF
Xtropicalis  all identical  ENSXETG00000017907  1234SSVPYFSMEEDDDPDEGIHLIVC
protein features
start (aa)end (aa)featuredetails 
13301330CONFLICTN -> D (in Ref. 2; CAH18110).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3960 / 3960
position (AA) of stopcodon in wt / mu AA sequence 1320 / 1320
position of stopcodon in wt / mu cDNA 4304 / 4304
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 345 / 345
chromosome 6
strand 1
last intron/exon boundary 4099
theoretical NMD boundary in CDS 3704
length of CDS 3960
coding sequence (CDS) position 3137
cDNA position
(for ins/del: last normal base / first normal base)		 3481
gDNA position
(for ins/del: last normal base / first normal base)		 115462
chromosomal position
(for ins/del: last normal base / first normal base)		 71238105
original gDNA sequence snippet TTTTAGTGTAGAAGAAGAGGATGGTTCTGAAGATGGAGTAC
altered gDNA sequence snippet TTTTAGTGTAGAAGAAGAGGGTGGTTCTGAAGATGGAGTAC
original cDNA sequence snippet TTTTAGTGTAGAAGAAGAGGATGGTTCTGAAGATGGAGTAC
altered cDNA sequence snippet TTTTAGTGTAGAAGAAGAGGGTGGTTCTGAAGATGGAGTAC
wildtype AA sequence MTEVQAMVEF SVELNKFYNV DLFQRGFYQI RASMKIPSRI PHRVEASLLH ATGMTLAFPA
SVHDSLICSK TFQILYKNEE VVLNDVMIFK VKMLLDERKI EETLEEMNFL LSLDLHFTDG
DYSADDLNAL QLISSRTLKL HFSPHRGLHH HVNVMFDYFH LSVVSVTVHA SLVALHQPLI
SFPRPVKTTW LNRNAPAQNK DSVIPTLESV VFGINYTKQL SPDGCSFIIA DSFLHHAYRF
HYTLCATLLL AFKGLHSYFI TVTEEIPSCQ KLELEEMDVE ARLTELCEEV KKIENPDELA
ELINMNLAQL CSLLMALWGQ FLEVITLHEE LRILLAQEHH TLRVRRFSEA FFCFEHPREA
AIAYQELHAQ SHLQMCTAIK NTSFCSSLPP LPIECSELDG DLNSLPIIFE DRYLDSVTEG
KLDISQDDSE ITQMEHNLAS RRSSDDCHDH QTTPSLGVRT IEIKPSNKDP FSGENITVKL
GPWTELRQEE ILVDNLLPNF ESLESNGKSK SIEITFEKEA LQEAKCLSIG ESLTKLRSNL
PAPSTKEYHV VVSGDTIKLP DISATYASSR FSDSGVESEP SSFATHPNTD LVFETVQGQG
PCNSERLFPQ LLMKPDYNVK FSLGNHCTES TSAISEIQSS LTSINSLPSD DELSPDENSK
KSVVPECHLN DSKTVLNLGT TDLPKCDDTK KSSITLQQQS VVFSGNLDNE TVAIHSLNSS
IKDPLQFVFS DEETSSDVKS SCSSKPNLDT MCKGFQSPDK SNNSTGTAIT LNSKLICLGT
PCVISGSISS NTDVSEDRTM KKNSDVLNLT QMYSEIPTVE SETHLGTSDP FSASTDIVKQ
GLVENYFGSQ SSTDISDTCA VSYSNALSPQ KETSEKEISN LQQEQDKEDE EEEQDQQMVQ
NGYYEETDYS ALDGTINAHY TSRDELMEER LTKSEKINSD YLRDGINMPT VCTSGCLSFP
SAPRESPCNV KYSSKSKFDA ITKQPSSTSY NFTSSISWYE SSPKPQIQAF LQAKEELKLL
KLPGFMYSEV PLLASSVPYF SVEEEDGSED GVHLIVCVHG LDGNSADLRL VKTYIELGLP
GGRIDFLMSE RNQNDTFADF DSMTDRLLDE IIQYIQIYSL TVSKISFIGH SLGNLIIRSV
LTRPRFKYYL NKLHTFLSLS GPHLGTLYNS SALVNTGLWF MQKWKKSGSL LQLTCRDHSD
PRQTFLYKLS NKAGLHYFKN VVLVGSLQDR YVPYHSARIE MCKTALKDKQ SGQIYSEMIH
NLLRPVLQSK DCNLVRYNVI NALPNTADSL IGRAAHIAVL DSEIFLEKFF LVAALKYFQ*
mutated AA sequence MTEVQAMVEF SVELNKFYNV DLFQRGFYQI RASMKIPSRI PHRVEASLLH ATGMTLAFPA
SVHDSLICSK TFQILYKNEE VVLNDVMIFK VKMLLDERKI EETLEEMNFL LSLDLHFTDG
DYSADDLNAL QLISSRTLKL HFSPHRGLHH HVNVMFDYFH LSVVSVTVHA SLVALHQPLI
SFPRPVKTTW LNRNAPAQNK DSVIPTLESV VFGINYTKQL SPDGCSFIIA DSFLHHAYRF
HYTLCATLLL AFKGLHSYFI TVTEEIPSCQ KLELEEMDVE ARLTELCEEV KKIENPDELA
ELINMNLAQL CSLLMALWGQ FLEVITLHEE LRILLAQEHH TLRVRRFSEA FFCFEHPREA
AIAYQELHAQ SHLQMCTAIK NTSFCSSLPP LPIECSELDG DLNSLPIIFE DRYLDSVTEG
KLDISQDDSE ITQMEHNLAS RRSSDDCHDH QTTPSLGVRT IEIKPSNKDP FSGENITVKL
GPWTELRQEE ILVDNLLPNF ESLESNGKSK SIEITFEKEA LQEAKCLSIG ESLTKLRSNL
PAPSTKEYHV VVSGDTIKLP DISATYASSR FSDSGVESEP SSFATHPNTD LVFETVQGQG
PCNSERLFPQ LLMKPDYNVK FSLGNHCTES TSAISEIQSS LTSINSLPSD DELSPDENSK
KSVVPECHLN DSKTVLNLGT TDLPKCDDTK KSSITLQQQS VVFSGNLDNE TVAIHSLNSS
IKDPLQFVFS DEETSSDVKS SCSSKPNLDT MCKGFQSPDK SNNSTGTAIT LNSKLICLGT
PCVISGSISS NTDVSEDRTM KKNSDVLNLT QMYSEIPTVE SETHLGTSDP FSASTDIVKQ
GLVENYFGSQ SSTDISDTCA VSYSNALSPQ KETSEKEISN LQQEQDKEDE EEEQDQQMVQ
NGYYEETDYS ALDGTINAHY TSRDELMEER LTKSEKINSD YLRDGINMPT VCTSGCLSFP
SAPRESPCNV KYSSKSKFDA ITKQPSSTSY NFTSSISWYE SSPKPQIQAF LQAKEELKLL
KLPGFMYSEV PLLASSVPYF SVEEEGGSED GVHLIVCVHG LDGNSADLRL VKTYIELGLP
GGRIDFLMSE RNQNDTFADF DSMTDRLLDE IIQYIQIYSL TVSKISFIGH SLGNLIIRSV
LTRPRFKYYL NKLHTFLSLS GPHLGTLYNS SALVNTGLWF MQKWKKSGSL LQLTCRDHSD
PRQTFLYKLS NKAGLHYFKN VVLVGSLQDR YVPYHSARIE MCKTALKDKQ SGQIYSEMIH
NLLRPVLQSK DCNLVRYNVI NALPNTADSL IGRAAHIAVL DSEIFLEKFF LVAALKYFQ*
speed 0.65 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