Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999578615723503 (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) chr3:140178485G>AN/A show variant in all transcripts   IGV
HGNC symbol CLSTN2
Ensembl transcript ID ENST00000458420
Genbank transcript ID NM_022131
UniProt peptide Q9H4D0
alteration type single base exchange
alteration region CDS
DNA changes c.1096G>A
cDNA.1286G>A
g.524459G>A
AA changes V366I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 366
frameshift no
known variant Reference ID: rs7632885
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC19818-686912949
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4861
0.9881
(flanking)4.5421
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased524452wt: 0.50 / mu: 0.58wt: CAGGGTGCCAAAGTC
mu: CAGGGTGCCAAAATC		 GGGT|gcca
Donor gained5244640.39mu: ATCCCCGATGGGATT CCCC|gatg
Donor gained5244620.50mu: AAATCCCCGATGGGA ATCC|ccga
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      366IFKFDGRQGAKVPDGIVPKNLTDQ
mutated  all conserved    366RQGAKIPDGIVPKNLTD
Ptroglodytes  all conserved  ENSPTRG00000015463  366RQGAKIPDGIVPKNLTD
Mmulatta  all conserved  ENSMMUG00000003169  366RQGAKIPDGIVPKNLTD
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000032452  368DGRQGAKIPDGIVPKNLTD
Ggallus  all conserved  ENSGALG00000005310  289IFKFDGKQGAKIPDGIVPKNLTD
Trubripes  all conserved  ENSTRUG00000008194  289IFTFDGRQAAKIPDWVVPQN
Drerio  all conserved  ENSDARG00000060637  354IFRFDGRQAANIPDWVVPQNLTD
Dmelanogaster  all identical  FBgn0039928  347IFHFDGSTGVVVPATVIDHYDFSSQ
Celegans  all identical  B0034.3  353-IEFDGARGVTVSDENHQGLIP----D
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
21831TOPO_DOMExtracellular (Potential).lost
374374CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
716716CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
729729CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
832852TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
847847CONFLICTV -> D (in Ref. 6; AAI03507).might get lost (downstream of altered splice site)
853955TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
889929COMPBIASGlu-rich (highly acidic).might get lost (downstream of altered splice site)
946946CONFLICTL -> P (in Ref. 6; AAI03507).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2868 / 2868
position (AA) of stopcodon in wt / mu AA sequence 956 / 956
position of stopcodon in wt / mu cDNA 3058 / 3058
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 191 / 191
chromosome 3
strand 1
last intron/exon boundary 2858
theoretical NMD boundary in CDS 2617
length of CDS 2868
coding sequence (CDS) position 1096
cDNA position
(for ins/del: last normal base / first normal base)		 1286
gDNA position
(for ins/del: last normal base / first normal base)		 524459
chromosomal position
(for ins/del: last normal base / first normal base)		 140178485
original gDNA sequence snippet ACGGCAGGCAGGGTGCCAAAGTCCCCGATGGGATTGTGCCC
altered gDNA sequence snippet ACGGCAGGCAGGGTGCCAAAATCCCCGATGGGATTGTGCCC
original cDNA sequence snippet ACGGCAGGCAGGGTGCCAAAGTCCCCGATGGGATTGTGCCC
altered cDNA sequence snippet ACGGCAGGCAGGGTGCCAAAATCCCCGATGGGATTGTGCCC
wildtype AA sequence MLPGRLCWVP LLLALGVGSG SGGGGDSRQR RLLAAKVNKH KPWIETSYHG VITENNDTVI
LDPPLVALDK DAPVPFAGEI CAFKIHGQEL PFEAVVLNKT SGEGRLRAKS PIDCELQKEY
TFIIQAYDCG AGPHETAWKK SHKAVVHIQV KDVNEFAPTF KEPAYKAVVT EGKIYDSILQ
VEAIDEDCSP QYSQICNYEI VTTDVPFAID RNGNIRNTEK LSYDKQHQYE ILVTAYDCGQ
KPAAQDTLVQ VDVKPVCKPG WQDWTKRIEY QPGSGSMPLF PSIHLETCDG AVSSLQIVTE
LQTNYIGKGC DRETYSEKSL QKLCGASSGI IDLLPSPSAA TNWTAGLLVD SSEMIFKFDG
RQGAKVPDGI VPKNLTDQFT ITMWMKHGPS PGVRAEKETI LCNSDKTEMN RHHYALYVHN
CRLVFLLRKD FDQADTFRPA EFHWKLDQIC DKEWHYYVIN VEFPVVTLYM DGATYEPYLV
TNDWPIHPSH IAMQLTVGAC WQGGEVTKPQ FAQFFHGSLA SLTIRPGKME SQKVISCLQA
CKEGLDINSL ESLGQGIKYH FNPSQSILVM EGDDIGNINR ALQKVSYINS RQFPTAGVRR
LKVSSKVQCF GEDVCISIPE VDAYVMVLQA IEPRITLRGT DHFWRPAAQF ESARGVTLFP
DIKIVSTFAK TEAPGDVKTT DPKSEVLEEM LHNLDFCDIL VIGGDLDPRQ ECLELNHSEL
HQRHLDATNS TAGYSIYGVG SMSRYEQVLH HIRYRNWRPA SLEARRFRIK CSELNGRYTS
NEFNLEVSIL HEDQVSDKEH VNHLIVQPPF LQSVHHPESR SSIQHSSVVP SIATVVIIIS
VCMLVFVVAM GVYRVRIAHQ HFIQETEAAK ESEMDWDDSA LTITVNPMEK HEGPGHGEDE
TEGEEEEEAE EEMSSSSGSD DSEEEEEEEG MGRGRHGQNG ARQAQLEWDD STLPY*
mutated AA sequence MLPGRLCWVP LLLALGVGSG SGGGGDSRQR RLLAAKVNKH KPWIETSYHG VITENNDTVI
LDPPLVALDK DAPVPFAGEI CAFKIHGQEL PFEAVVLNKT SGEGRLRAKS PIDCELQKEY
TFIIQAYDCG AGPHETAWKK SHKAVVHIQV KDVNEFAPTF KEPAYKAVVT EGKIYDSILQ
VEAIDEDCSP QYSQICNYEI VTTDVPFAID RNGNIRNTEK LSYDKQHQYE ILVTAYDCGQ
KPAAQDTLVQ VDVKPVCKPG WQDWTKRIEY QPGSGSMPLF PSIHLETCDG AVSSLQIVTE
LQTNYIGKGC DRETYSEKSL QKLCGASSGI IDLLPSPSAA TNWTAGLLVD SSEMIFKFDG
RQGAKIPDGI VPKNLTDQFT ITMWMKHGPS PGVRAEKETI LCNSDKTEMN RHHYALYVHN
CRLVFLLRKD FDQADTFRPA EFHWKLDQIC DKEWHYYVIN VEFPVVTLYM DGATYEPYLV
TNDWPIHPSH IAMQLTVGAC WQGGEVTKPQ FAQFFHGSLA SLTIRPGKME SQKVISCLQA
CKEGLDINSL ESLGQGIKYH FNPSQSILVM EGDDIGNINR ALQKVSYINS RQFPTAGVRR
LKVSSKVQCF GEDVCISIPE VDAYVMVLQA IEPRITLRGT DHFWRPAAQF ESARGVTLFP
DIKIVSTFAK TEAPGDVKTT DPKSEVLEEM LHNLDFCDIL VIGGDLDPRQ ECLELNHSEL
HQRHLDATNS TAGYSIYGVG SMSRYEQVLH HIRYRNWRPA SLEARRFRIK CSELNGRYTS
NEFNLEVSIL HEDQVSDKEH VNHLIVQPPF LQSVHHPESR SSIQHSSVVP SIATVVIIIS
VCMLVFVVAM GVYRVRIAHQ HFIQETEAAK ESEMDWDDSA LTITVNPMEK HEGPGHGEDE
TEGEEEEEAE EEMSSSSGSD DSEEEEEEEG MGRGRHGQNG ARQAQLEWDD STLPY*
speed 0.60 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