Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999707753 (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) chr15:44943757A>GN/A show variant in all transcripts   IGV
HGNC symbol SPG11
Ensembl transcript ID ENST00000261866
Genbank transcript ID NM_025137
UniProt peptide Q96JI7
alteration type single base exchange
alteration region CDS
DNA changes c.1388T>C
cDNA.1405T>C
g.12120T>C
AA changes F463S Score: 155 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 463
frameshift no
known variant Reference ID: rs3759871
databasehomozygous (G/G)heterozygousallele carriers
1000G56212541816
ExAC13393598119374
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3030.004
0.690.009
(flanking)0.2670.012
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 increased12127wt: 0.8616 / mu: 0.8772 (marginal change - not scored)wt: GGCATGCAGTGTTTTTCCCTTGGCACAAAGTGTATTCCTGT
mu: GGCATGCAGTGTTCTTCCCTTGGCACAAAGTGTATTCCTGT		 cctt|GGCA
Donor increased12111wt: 0.65 / mu: 0.76wt: GGGCATGCAGTGTTT
mu: GGGCATGCAGTGTTC		 GCAT|gcag
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      463LWDLETQGMQCFSLGTKCIPVDSS
mutated  not conserved    463LWDLETQGMQCSSLGTKCIPVDS
Ptroglodytes  all identical  ENSPTRG00000007016  463LWDLETQGMQCFSLGTKCIPVDS
Mmulatta  all identical  ENSMMUG00000014291  460LWDLENQGMQCFSLGRKCIPVDS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033396  456LWDLETQSMQCFSLSQKCTPVDI
Ggallus  all conserved  ENSGALG00000008180  471LWDFESQDVAHYQFGKNSVYVDC
Trubripes  not conserved  ENSTRUG00000014452  394SGRVSYHQTCGEAAPVQR
Drerio  no alignment  ENSDARG00000045968  n/a
Dmelanogaster  no alignment  FBgn0034786  n/a
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000025297  341QWDMQSKEISSYPLGKAHFVHCS
protein features
start (aa)end (aa)featuredetails 
11237TOPO_DOMExtracellular (Potential).lost
612612CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10461046CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12051205CONFLICTN -> K (in Ref. 5; CAH10686).might get lost (downstream of altered splice site)
12381258TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
12591471TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
14721492TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
14932443TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
16741674CONFLICTR -> G (in Ref. 6; BAC03600).might get lost (downstream of altered splice site)
19551955MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19581958MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19611961MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
22532253CONFLICTD -> G (in Ref. 4; AAH94704).might get lost (downstream of altered splice site)
23782378CONFLICTF -> L (in Ref. 6; BAB15065).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7332 / 7332
position (AA) of stopcodon in wt / mu AA sequence 2444 / 2444
position of stopcodon in wt / mu cDNA 7349 / 7349
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 18 / 18
chromosome 15
strand -1
last intron/exon boundary 7169
theoretical NMD boundary in CDS 7101
length of CDS 7332
coding sequence (CDS) position 1388
cDNA position
(for ins/del: last normal base / first normal base)		 1405
gDNA position
(for ins/del: last normal base / first normal base)		 12120
chromosomal position
(for ins/del: last normal base / first normal base)		 44943757
original gDNA sequence snippet GACCCAGGGCATGCAGTGTTTTTCCCTTGGCACAAAGTGTA
altered gDNA sequence snippet GACCCAGGGCATGCAGTGTTCTTCCCTTGGCACAAAGTGTA
original cDNA sequence snippet GACCCAGGGCATGCAGTGTTTTTCCCTTGGCACAAAGTGTA
altered cDNA sequence snippet GACCCAGGGCATGCAGTGTTCTTCCCTTGGCACAAAGTGTA
wildtype AA sequence MAAEEGVASA ASAGGSWGTA AMGRVLPMLL VPVPAEAMGQ LGSRAQLRTQ PEALGSLTAA
GSLQVLSLTP GSRGGGRCCL EGPFWHFLWE DSRNSSTPTE KPKLLALGEN YELLIYEFNL
KDGRCDATIL YSCSREALQK LIDDQDISIS LLSLRILSFH NNTSLLFINK CVILHIIFPE
RDAAIRVLNC FTLPLPAQAV DMIIDTQLCR GILFVLSSLG WIYIFDVVDG TYVAHVDLAL
HKEDMCNEQQ QEPAKISSFT SLKVSQDLDV AVIVSSSNSA VALNLNLYFR QHPGHLLCER
ILEDLPIQGP KGVDEDDPVN SAYNMKLAKF SFQIDRSWKA QLSSLNETIK NSKLEVSCCA
PWFQDILHLE SPESGNHSTS VQSWAFIPQD IMHGQYNVLQ KDHAKTSDPG RSWKIMHISE
QEEPIELKCV SVTGFTALFT WEVERMGYTI TLWDLETQGM QCFSLGTKCI PVDSSGDQQL
CFVLTENGLS LILFGLTQEE FLNRLMIHGS ASTVDTLCHL NGWGRCSIPI HALEAGIENR
QLDTVNFFLK SKENLFNPSS KSSVSDQFDH LSSHLYLRNV EELIPALDLL CSAIRESYSE
PQSKHFSEQL LNLTLSFLNN QIKELFIHTE ELDEHLQKGV NILTSYINEL RTFMIKFPWK
LTDAIDEYDV HENVPKVKES NIWKKLSFEE VIASAILNNK IPEAQTFFRI DSHSAQKLEE
LIGIGLNLVF DNLKKNNIKE ASELLKNMGF DVKGQLLKIC FYTTNKNIRD FLVEILKEKN
YFSEKEKRTI DFVHQVEKLY LGHFQENMQI QSFPRYWIKE QDFFKHKSVL DSFLKYDCKD
EFNKQDHRIV LNWALWWDQL TQESILLPRI SPEEYKSYSP EALWRYLTAR HDWLNIILWI
GEFQTQHSYA SLQQNKWPLL TVDVINQNTS CNNYMRNEIL DKLARNGVFL ASELEDFECF
LLRLSRIGGV IQDTLPVQNY KTKEGWDFHS QFILYCLEHS LQHLLYVYLD CYKLSPENCP
FLEKKELHEA HPWFEFLVQC RQVASNLTDP KLIFQASLAN AQILIPTNQA SVSSMLLEGH
TLLALATTMY SPGGVSQVVQ NEENENCLKK VDPQLLKMAL TPYPKLKTAL FPQCTPPSVL
PSDITIYHLI QSLSPFDPSR LFGWQSANTL AIGDAWSHLP HFSSPDLVNK YAIVERLNFA
YYLHNGRPSF AFGTFLVQEL IKSKTPKQLI QQVGNEAYVI GLSSFHIPSI GAACVCFLEL
LGLDSLKLRV DMKVANIILS YKCRNEDAQY SFIRESVAEK LSKLADGEKT TTEELLVLLE
EGTWNSIQQQ EIKRLSSESS SQWALVVQFC RLHNMKLSIS YLRECAKAND WLQFIIHSQL
HNYHPAEVKS LIQYFSPVIQ DHLRLAFENL PSVPTSKMDS DQVCNKCPQE LQGSKQEMTD
LFEILLQCSE EPDSWHWLLV EAVKQQAPIL SVLASCLQGA SAISCLCVWI ITSVEDNVAT
EAMGHIQDST EDHTWNLEDL SVIWRTLLTR QKSKTLIRGF QLFFKDSPLL LVMEMYELCM
FFRNYKEAEA KLLEFQKSLE TLNTAATKVH PVIPAMWLED QVCFLLKLML QQCKTQYELG
KLLQLFVERE HLFSDGPDVK KLCILCQILK DTSIAINHTI ITSYSIENLQ HECRSILERL
QTDGQFALAR RVAELAELPV DNLVIKEITQ EMQTLKHIEQ WSLKQARIDF WKKCHENFKK
NSISSKAASS FFSTQAHVAC EHPTGWSSME ERHLLLTLAG HWLAQEDVVP LDKLEELEKQ
IWLCRITQHT LGRNQEETEP RFSRQISTSG ELSFDSLASE FSFSKLAALN TSKYLELNSL
PSKETCENRL DWKEQESLNF LIGRLLDDGC VHEASRVCRY FHFYNPDVAL VLHCRALASG
EASMEDLHPE IHALLQSAEL LEEEAPDIPL RRVHSTSSLD SQKFVTVPSS NEVVTNLEVL
TSKCLHGKNY CRQVLCLYDL AKELGCSYTD VAAQDGEAML RKILASQQPD RCKRAQAFIS
TQGLKPDTVA ELVAEEVTRE LLTSSQGTGH KQMFNPTEES QTFLQLTTLC QDRTLVGMKL
LDKISSVPHG ELSCTTELLI LAHHCFTLTC HMEGIIRVLQ AAHMLTDNHL APSEEYGLVV
RLLTGIGRYN EMTYIFDLLH KKHYFEVLMR KKLDPSGTLK TALLDYIKRC RPGDSEKHNM
IALCFSMCRE IGENHEAAAR IQLKLIESQP WEDSLKDGHQ LKQLLLKALT LMLDAAESYA
KDSCVRQAQH CQRLTKLITL QIHFLNTGQN TMLINLGRHK LMDCILALPR FYQASIVAEA
YDFVPDWAEI LYQQVILKGD FNYLEEFKQQ RLLKSSIFEE ISKKYKQHQP TDMVMENLKK
LLTYCEDVYL YYKLAYEHKF YEIVNVLLKD PQTGCCLKDM LAG*
mutated AA sequence MAAEEGVASA ASAGGSWGTA AMGRVLPMLL VPVPAEAMGQ LGSRAQLRTQ PEALGSLTAA
GSLQVLSLTP GSRGGGRCCL EGPFWHFLWE DSRNSSTPTE KPKLLALGEN YELLIYEFNL
KDGRCDATIL YSCSREALQK LIDDQDISIS LLSLRILSFH NNTSLLFINK CVILHIIFPE
RDAAIRVLNC FTLPLPAQAV DMIIDTQLCR GILFVLSSLG WIYIFDVVDG TYVAHVDLAL
HKEDMCNEQQ QEPAKISSFT SLKVSQDLDV AVIVSSSNSA VALNLNLYFR QHPGHLLCER
ILEDLPIQGP KGVDEDDPVN SAYNMKLAKF SFQIDRSWKA QLSSLNETIK NSKLEVSCCA
PWFQDILHLE SPESGNHSTS VQSWAFIPQD IMHGQYNVLQ KDHAKTSDPG RSWKIMHISE
QEEPIELKCV SVTGFTALFT WEVERMGYTI TLWDLETQGM QCSSLGTKCI PVDSSGDQQL
CFVLTENGLS LILFGLTQEE FLNRLMIHGS ASTVDTLCHL NGWGRCSIPI HALEAGIENR
QLDTVNFFLK SKENLFNPSS KSSVSDQFDH LSSHLYLRNV EELIPALDLL CSAIRESYSE
PQSKHFSEQL LNLTLSFLNN QIKELFIHTE ELDEHLQKGV NILTSYINEL RTFMIKFPWK
LTDAIDEYDV HENVPKVKES NIWKKLSFEE VIASAILNNK IPEAQTFFRI DSHSAQKLEE
LIGIGLNLVF DNLKKNNIKE ASELLKNMGF DVKGQLLKIC FYTTNKNIRD FLVEILKEKN
YFSEKEKRTI DFVHQVEKLY LGHFQENMQI QSFPRYWIKE QDFFKHKSVL DSFLKYDCKD
EFNKQDHRIV LNWALWWDQL TQESILLPRI SPEEYKSYSP EALWRYLTAR HDWLNIILWI
GEFQTQHSYA SLQQNKWPLL TVDVINQNTS CNNYMRNEIL DKLARNGVFL ASELEDFECF
LLRLSRIGGV IQDTLPVQNY KTKEGWDFHS QFILYCLEHS LQHLLYVYLD CYKLSPENCP
FLEKKELHEA HPWFEFLVQC RQVASNLTDP KLIFQASLAN AQILIPTNQA SVSSMLLEGH
TLLALATTMY SPGGVSQVVQ NEENENCLKK VDPQLLKMAL TPYPKLKTAL FPQCTPPSVL
PSDITIYHLI QSLSPFDPSR LFGWQSANTL AIGDAWSHLP HFSSPDLVNK YAIVERLNFA
YYLHNGRPSF AFGTFLVQEL IKSKTPKQLI QQVGNEAYVI GLSSFHIPSI GAACVCFLEL
LGLDSLKLRV DMKVANIILS YKCRNEDAQY SFIRESVAEK LSKLADGEKT TTEELLVLLE
EGTWNSIQQQ EIKRLSSESS SQWALVVQFC RLHNMKLSIS YLRECAKAND WLQFIIHSQL
HNYHPAEVKS LIQYFSPVIQ DHLRLAFENL PSVPTSKMDS DQVCNKCPQE LQGSKQEMTD
LFEILLQCSE EPDSWHWLLV EAVKQQAPIL SVLASCLQGA SAISCLCVWI ITSVEDNVAT
EAMGHIQDST EDHTWNLEDL SVIWRTLLTR QKSKTLIRGF QLFFKDSPLL LVMEMYELCM
FFRNYKEAEA KLLEFQKSLE TLNTAATKVH PVIPAMWLED QVCFLLKLML QQCKTQYELG
KLLQLFVERE HLFSDGPDVK KLCILCQILK DTSIAINHTI ITSYSIENLQ HECRSILERL
QTDGQFALAR RVAELAELPV DNLVIKEITQ EMQTLKHIEQ WSLKQARIDF WKKCHENFKK
NSISSKAASS FFSTQAHVAC EHPTGWSSME ERHLLLTLAG HWLAQEDVVP LDKLEELEKQ
IWLCRITQHT LGRNQEETEP RFSRQISTSG ELSFDSLASE FSFSKLAALN TSKYLELNSL
PSKETCENRL DWKEQESLNF LIGRLLDDGC VHEASRVCRY FHFYNPDVAL VLHCRALASG
EASMEDLHPE IHALLQSAEL LEEEAPDIPL RRVHSTSSLD SQKFVTVPSS NEVVTNLEVL
TSKCLHGKNY CRQVLCLYDL AKELGCSYTD VAAQDGEAML RKILASQQPD RCKRAQAFIS
TQGLKPDTVA ELVAEEVTRE LLTSSQGTGH KQMFNPTEES QTFLQLTTLC QDRTLVGMKL
LDKISSVPHG ELSCTTELLI LAHHCFTLTC HMEGIIRVLQ AAHMLTDNHL APSEEYGLVV
RLLTGIGRYN EMTYIFDLLH KKHYFEVLMR KKLDPSGTLK TALLDYIKRC RPGDSEKHNM
IALCFSMCRE IGENHEAAAR IQLKLIESQP WEDSLKDGHQ LKQLLLKALT LMLDAAESYA
KDSCVRQAQH CQRLTKLITL QIHFLNTGQN TMLINLGRHK LMDCILALPR FYQASIVAEA
YDFVPDWAEI LYQQVILKGD FNYLEEFKQQ RLLKSSIFEE ISKKYKQHQP TDMVMENLKK
LLTYCEDVYL YYKLAYEHKF YEIVNVLLKD PQTGCCLKDM LAG*
speed 0.62 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