Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999982 (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) chr19:51170706A>GN/A show variant in all transcripts   IGV
HGNC symbol SHANK1
Ensembl transcript ID ENST00000391813
Genbank transcript ID N/A
UniProt peptide Q9Y566
alteration type single base exchange
alteration region CDS
DNA changes c.2672T>C
cDNA.2672T>C
g.52002T>C
AA changes V891A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 891
frameshift no
known variant Reference ID: rs3745521
databasehomozygous (G/G)heterozygousallele carriers
1000G13818332214
ExAC7702610213804
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2460
0.0820
(flanking)-0.1440
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 increased52002wt: 0.2747 / mu: 0.2802 (marginal change - not scored)wt: CTGCCAGCCCCGGGCCCCTGTGACGAGCGGAAGGGGTCCCC
mu: CTGCCAGCCCCGGGCCCCTGCGACGAGCGGAAGGGGTCCCC		 ctgt|GACG
Donor increased52007wt: 0.72 / mu: 0.83wt: TGACGAGCGGAAGGG
mu: CGACGAGCGGAAGGG		 ACGA|gcgg
Donor marginally increased52002wt: 0.9240 / mu: 0.9771 (marginal change - not scored)wt: CCCTGTGACGAGCGG
mu: CCCTGCGACGAGCGG		 CTGT|gacg
Donor marginally increased52000wt: 0.9904 / mu: 0.9907 (marginal change - not scored)wt: GCCCCTGTGACGAGC
mu: GCCCCTGCGACGAGC		 CCCT|gtga
distance from splice site 1258
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      891RFLENCQPRAPVTSGRGPPSEDGP
mutated  not conserved    891RFLENCQPRAPATSGRGPPSE
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000009357  1493RFLENCQPRAPATSGRGPPSEDG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000038738  1510RFLENCQARPPPAGTRGSSTEDG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000006583  1413EQTAS-DSLSQRG
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0040752  1283---PAQNGNGNGSTSG
Celegans  no alignment  C33B4.3  n/a
Xtropicalis  not conserved  ENSXETG00000000210  1355RFMENSTHKEEEEQSKVAMVKVK
protein features
start (aa)end (aa)featuredetails 
927927CONFLICTS -> Y (in Ref. 1; AAD45121/AAF35887).might get lost (downstream of altered splice site)
937937CONFLICTP -> T (in Ref. 1; AAD45121/AAF35887).might get lost (downstream of altered splice site)
969969CONFLICTS -> T (in Ref. 1; AAD45121/AAF35887).might get lost (downstream of altered splice site)
10021007COMPBIASPoly-His.might get lost (downstream of altered splice site)
10141019COMPBIASPoly-His.might get lost (downstream of altered splice site)
10851085CONFLICTF -> I (in Ref. 1; AAD45121/AAF35887).might get lost (downstream of altered splice site)
11331133CONFLICTT -> S (in Ref. 1; AAD45121/AAF35887).might get lost (downstream of altered splice site)
11891195COMPBIASPoly-Gly.might get lost (downstream of altered splice site)
17091717COMPBIASPoly-Gly.might get lost (downstream of altered splice site)
18321832CONFLICTS -> C (in Ref. 1; AAD45121/AAF35887).might get lost (downstream of altered splice site)
18441854COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
18961902COMPBIASPoly-Gly.might get lost (downstream of altered splice site)
19701979COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
20982161DOMAINSAM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4647 / 4647
position (AA) of stopcodon in wt / mu AA sequence 1549 / 1549
position of stopcodon in wt / mu cDNA 4647 / 4647
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 1 / 1
chromosome 19
strand -1
last intron/exon boundary 3930
theoretical NMD boundary in CDS 3879
length of CDS 4647
coding sequence (CDS) position 2672
cDNA position
(for ins/del: last normal base / first normal base)		 2672
gDNA position
(for ins/del: last normal base / first normal base)		 52002
chromosomal position
(for ins/del: last normal base / first normal base)		 51170706
original gDNA sequence snippet CTGCCAGCCCCGGGCCCCTGTGACGAGCGGAAGGGGTCCCC
altered gDNA sequence snippet CTGCCAGCCCCGGGCCCCTGCGACGAGCGGAAGGGGTCCCC
original cDNA sequence snippet CTGCCAGCCCCGGGCCCCTGTGACGAGCGGAAGGGGTCCCC
altered cDNA sequence snippet CTGCCAGCCCCGGGCCCCTGCGACGAGCGGAAGGGGTCCCC
wildtype AA sequence MQLMALEQRF GSGLPGGGQP LCLMMSSPLP PPPPHFSCLP ASDYIIKEKT VLLQKKDSEG
FGFVLRGAKA QTPIEEFTPT PAFPALQYLE SVDEGGVAWR AGLRMGDFLI EVNGQNVVKV
GHRQVVNMIR QGGNTLMVKV VMVTRHPDMD EAVHKKAPQQ AKRLPPPTIS LRSKSMTSEL
EEMEYEQQPA PVPSMEKKRT VYQMALNKLD EILAAAQQTI SASESPGPGG LASLGKHRPK
GFFATESSFD PHHRAQPSYE RPSFLPPGPG LMLRQKSIGA AEDDRPYLAP PAMKFSRSLS
VPGSEDIPPP PTTSPPEPPY STPPVPSSSG RLTPSPRGGP FNPGSGGPLP ASSPASFDGP
SPPDTRVGSR EKSLYHSGPL PPAHHHPPHH HHHHAPPPQP HHHHAHPPHP PEMETGGSPD
DPPPRLALGP QPSLRGWRGG GPSPTPGAPS PSHHGSAGGG GGSSQGPALR YFQLPPRAAS
AAMYVPARSG RGRKGPLVKQ TKVEGEPQKG GGLPPAPSPT SPASPQPPPA VAAPSEKNSI
PIPTIIIKAP STSSSGRSSQ GSSTEAEPPT QPEPTGGGGG GGSSPSPAPA MSPVPPSPSP
VPTPASPSGP ATLDFTSQFG AALVGAARRE GGWQNEARRR STLFLSTDAG DEDGGDGGLG
TGAAPGPRLR HSKSIDEGMF SAEPYLRLES AGSGAGYGGY GAGSRAYGGG GGSSAFTSFL
PPRPLVHPLT GKALDPASPL GLALAARERA LKESSEGGGA PQPPPRPPSP RYEAPPPTPH
HHSPHAHHEP VLRLWGASPP DPARRELGYR AGLGSQEKSL PASPPAARRS LLHRLPPTAP
GVGPLLLQLG TEPPAPHPGV SKPWRSAAPE EPERLPLHVR FLENCQPRAP VTSGRGPPSE
DGPGVPPPSP RRSVPPSPTS PRASEENGLP LLVLPPPAPS VDVEDGEFLF VEPLPPPLEF
SNSFEKPESP LTPGPPHPLP DTPAPATPLP PVPPPAVAAA PPTLDSTASS LTSYDSEVAT
LTQGASAAPG DPHPPGPPAP AAPAPAAPQP GPDPPPGTDS GIEEVDSRSS SDHPLETISS
ASTLSSLSAE GGGSAGGGGG AGAGVASGPE LLDTYVAYLD GQAFGGSSTP GPPYPPQLMT
PSKLRGRALG ASGGLRPGPS GGLRDPVTPT SPTVSVTGAG TDGLLALRAC SGPPTAGVAG
GPVAVEPEVP PVPLPTASSL PRKLLPWEEG PGPPPPPLPG PLAQPQASAL ATVKASIISE
LSSKLQQFGG SSAAGGALPW ARGGSGGGGD SHHGGASYVP ERTSSLQRQR LSDDSQSSLL
SKPVSSLFQN WPKPPLPPLP TGTGVSPTAA AAPGATSPSA SSSSTSTRHL QGVEFEMRPP
LLRRAPSPSL LPASEHKVSP APRPSSLPIL PSGPLYPGLF DIRGSPTGGA GGSADPFAPV
FVPPHPGISG GLGGALSGAS RSLSPTRLLS LPPDKPFGAK PLGFWTKFDV ADWLEWLGLA
EHRAQFLDHE IDGSHLPALT KEDYVDLGVT RVGHRMNIDR ALKFFLER*
mutated AA sequence MQLMALEQRF GSGLPGGGQP LCLMMSSPLP PPPPHFSCLP ASDYIIKEKT VLLQKKDSEG
FGFVLRGAKA QTPIEEFTPT PAFPALQYLE SVDEGGVAWR AGLRMGDFLI EVNGQNVVKV
GHRQVVNMIR QGGNTLMVKV VMVTRHPDMD EAVHKKAPQQ AKRLPPPTIS LRSKSMTSEL
EEMEYEQQPA PVPSMEKKRT VYQMALNKLD EILAAAQQTI SASESPGPGG LASLGKHRPK
GFFATESSFD PHHRAQPSYE RPSFLPPGPG LMLRQKSIGA AEDDRPYLAP PAMKFSRSLS
VPGSEDIPPP PTTSPPEPPY STPPVPSSSG RLTPSPRGGP FNPGSGGPLP ASSPASFDGP
SPPDTRVGSR EKSLYHSGPL PPAHHHPPHH HHHHAPPPQP HHHHAHPPHP PEMETGGSPD
DPPPRLALGP QPSLRGWRGG GPSPTPGAPS PSHHGSAGGG GGSSQGPALR YFQLPPRAAS
AAMYVPARSG RGRKGPLVKQ TKVEGEPQKG GGLPPAPSPT SPASPQPPPA VAAPSEKNSI
PIPTIIIKAP STSSSGRSSQ GSSTEAEPPT QPEPTGGGGG GGSSPSPAPA MSPVPPSPSP
VPTPASPSGP ATLDFTSQFG AALVGAARRE GGWQNEARRR STLFLSTDAG DEDGGDGGLG
TGAAPGPRLR HSKSIDEGMF SAEPYLRLES AGSGAGYGGY GAGSRAYGGG GGSSAFTSFL
PPRPLVHPLT GKALDPASPL GLALAARERA LKESSEGGGA PQPPPRPPSP RYEAPPPTPH
HHSPHAHHEP VLRLWGASPP DPARRELGYR AGLGSQEKSL PASPPAARRS LLHRLPPTAP
GVGPLLLQLG TEPPAPHPGV SKPWRSAAPE EPERLPLHVR FLENCQPRAP ATSGRGPPSE
DGPGVPPPSP RRSVPPSPTS PRASEENGLP LLVLPPPAPS VDVEDGEFLF VEPLPPPLEF
SNSFEKPESP LTPGPPHPLP DTPAPATPLP PVPPPAVAAA PPTLDSTASS LTSYDSEVAT
LTQGASAAPG DPHPPGPPAP AAPAPAAPQP GPDPPPGTDS GIEEVDSRSS SDHPLETISS
ASTLSSLSAE GGGSAGGGGG AGAGVASGPE LLDTYVAYLD GQAFGGSSTP GPPYPPQLMT
PSKLRGRALG ASGGLRPGPS GGLRDPVTPT SPTVSVTGAG TDGLLALRAC SGPPTAGVAG
GPVAVEPEVP PVPLPTASSL PRKLLPWEEG PGPPPPPLPG PLAQPQASAL ATVKASIISE
LSSKLQQFGG SSAAGGALPW ARGGSGGGGD SHHGGASYVP ERTSSLQRQR LSDDSQSSLL
SKPVSSLFQN WPKPPLPPLP TGTGVSPTAA AAPGATSPSA SSSSTSTRHL QGVEFEMRPP
LLRRAPSPSL LPASEHKVSP APRPSSLPIL PSGPLYPGLF DIRGSPTGGA GGSADPFAPV
FVPPHPGISG GLGGALSGAS RSLSPTRLLS LPPDKPFGAK PLGFWTKFDV ADWLEWLGLA
EHRAQFLDHE IDGSHLPALT KEDYVDLGVT RVGHRMNIDR ALKFFLER*
speed 1.35 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