Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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) chr12:30881809T>CN/A show variant in all transcripts   IGV
HGNC symbol CAPRIN2
Ensembl transcript ID ENST00000298892
Genbank transcript ID NM_023925
UniProt peptide Q6IMN6
alteration type single base exchange
alteration region CDS
DNA changes c.1555A>G
cDNA.2306A>G
g.26077A>G
AA changes M519V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 519
frameshift no
known variant Reference ID: rs2304630
databasehomozygous (C/C)heterozygousallele carriers
1000G86210571919
ExAC20099-743112668
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1340.073
-0.5630
(flanking)-1.630
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased26076wt: 0.28 / mu: 0.66wt: CCAAAGTCTTGGACACCTTCCATGCAGAGCGAACAGAACAC
mu: CCAAAGTCTTGGACACCTTCCGTGCAGAGCGAACAGAACAC		 ttcc|ATGC
Donor gained260760.90mu: CCTTCCGTGCAGAGC TTCC|gtgc
distance from splice site 228
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      519KKQTPKSWTPSMQSEQNTTKSWTT
mutated  all conserved    519KKQTPKSWTPSVQSEQNTTKSWT
Ptroglodytes  all conserved  ENSPTRG00000004802  519KKQTPKSWTPSLQSEQNTTKSWT
Mmulatta  all conserved  ENSMMUG00000001359  518KKQTPKSWTPSVQSEQNTTKSWT
Fcatus  all conserved  ENSFCAG00000007004  517KKQSPKSWTPSVQNEQDITKSWT
Mmusculus  all conserved  ENSMUSG00000030309  427KKLPPGSWAVSVQSEQSGSRSWT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0042134  525QQQQFMQHSRPLAEVLGTGRFHFLQDSELD
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000007516  410---------PPVSS----TQPHK
protein features
start (aa)end (aa)featuredetails 
547547MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
560560MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
595595CONFLICTV -> A (in Ref. 4; BAB13830).might get lost (downstream of altered splice site)
924924MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
9931127DOMAINC1q.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3234 / 3234
position (AA) of stopcodon in wt / mu AA sequence 1078 / 1078
position of stopcodon in wt / mu cDNA 3985 / 3985
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 752 / 752
chromosome 12
strand -1
last intron/exon boundary 3417
theoretical NMD boundary in CDS 2615
length of CDS 3234
coding sequence (CDS) position 1555
cDNA position
(for ins/del: last normal base / first normal base)		 2306
gDNA position
(for ins/del: last normal base / first normal base)		 26077
chromosomal position
(for ins/del: last normal base / first normal base)		 30881809
original gDNA sequence snippet CAAAGTCTTGGACACCTTCCATGCAGAGCGAACAGAACACC
altered gDNA sequence snippet CAAAGTCTTGGACACCTTCCGTGCAGAGCGAACAGAACACC
original cDNA sequence snippet CAAAGTCTTGGACACCTTCCATGCAGAGCGAACAGAACACC
altered cDNA sequence snippet CAAAGTCTTGGACACCTTCCGTGCAGAGCGAACAGAACACC
wildtype AA sequence MEVQVSQASL GFELTSVEKS LREWSRLSRE VIAWLCPSSP NFILNFPPPP SASSVSMVQL
FSSPFGYQSP SGHSEEEREG NMKSAKPQVN HSQHGESQRA LSPLQSTLSS AASPSQAYET
YIENGLICLK HKIRNIEKKK LKLEDYKDRL KSGEHLNPDQ LEAVEKYEEV LHNLEFAKEL
QKTFSGLSLD LLKAQKKAQR REHMLKLEAE KKKLRTILQV QYVLQNLTQE HVQKDFKGGL
NGAVYLPSKE LDYLIKFSKL TCPERNESLS VEDQMEQSSL YFWDLLEGSE KAVVGTTYKH
LKDLLSKLLN SGYFESIPVP KNAKEKEVPL EEEMLIQSEK KTQLSKTESV KESESLMEFA
QPEIQPQEFL NRRYMTEVDY SNKQGEEQPW EADYARKPNL PKRWDMLTEP DGQEKKQESF
KSWEASGKHQ EVSKPAVSLE QRKQDTSKLR STLPEEQKKQ EISKSKPSPS QWKQDTPKSK
AGYVQEEQKK QETPKLWPVQ LQKEQDPKKQ TPKSWTPSMQ SEQNTTKSWT TPMCEEQDSK
QPETPKSWEN NVESQKHSLT SQSQISPKSW GVATASLIPN DQLLPRKLNT EPKDVPKPVH
QPVGSSSTLP KDPVLRKEKL QDLMTQIQGT CNFMQESVLD FDKPSSAIPT SQPPSATPGS
PVASKEQNLS SQSDFLQEPL QATSSPVTCS SNACLVTTDQ ASSGSETEFM TSETPEVFNV
NAPLPPRKEQ EIKESPYSPG YNQSFTTAST QTPPQCQLPS IHVEQTVHSQ ETANYHPDGT
IQVSNGSLAF YPAQTNVFPR PTQPFVNSRG SVRGCTRGGR LITNSYRSPG GYKGFDTYRG
LPSISNGNYS QLQFQAREYS GAPYSQRDNF QQCYKRGGTS GGPRANSRAG WSDSSQVSSP
ERDNETFNSG DSGQGDSRSM TPVDVPVTNP AATILPVHVY PLPQQMRVAF SAARTSNLAP
GTLDQPIVFD LLLNNLGETF DLQLGRFNCP VNGTYVFIFH MLKLAVNVPL YVNLMKNEEV
LVSAYANDGA PDHETASNHA ILQLFQGDQI WLRLHRGAIY GSSWKYSTFS GYLLYQD*
mutated AA sequence MEVQVSQASL GFELTSVEKS LREWSRLSRE VIAWLCPSSP NFILNFPPPP SASSVSMVQL
FSSPFGYQSP SGHSEEEREG NMKSAKPQVN HSQHGESQRA LSPLQSTLSS AASPSQAYET
YIENGLICLK HKIRNIEKKK LKLEDYKDRL KSGEHLNPDQ LEAVEKYEEV LHNLEFAKEL
QKTFSGLSLD LLKAQKKAQR REHMLKLEAE KKKLRTILQV QYVLQNLTQE HVQKDFKGGL
NGAVYLPSKE LDYLIKFSKL TCPERNESLS VEDQMEQSSL YFWDLLEGSE KAVVGTTYKH
LKDLLSKLLN SGYFESIPVP KNAKEKEVPL EEEMLIQSEK KTQLSKTESV KESESLMEFA
QPEIQPQEFL NRRYMTEVDY SNKQGEEQPW EADYARKPNL PKRWDMLTEP DGQEKKQESF
KSWEASGKHQ EVSKPAVSLE QRKQDTSKLR STLPEEQKKQ EISKSKPSPS QWKQDTPKSK
AGYVQEEQKK QETPKLWPVQ LQKEQDPKKQ TPKSWTPSVQ SEQNTTKSWT TPMCEEQDSK
QPETPKSWEN NVESQKHSLT SQSQISPKSW GVATASLIPN DQLLPRKLNT EPKDVPKPVH
QPVGSSSTLP KDPVLRKEKL QDLMTQIQGT CNFMQESVLD FDKPSSAIPT SQPPSATPGS
PVASKEQNLS SQSDFLQEPL QATSSPVTCS SNACLVTTDQ ASSGSETEFM TSETPEVFNV
NAPLPPRKEQ EIKESPYSPG YNQSFTTAST QTPPQCQLPS IHVEQTVHSQ ETANYHPDGT
IQVSNGSLAF YPAQTNVFPR PTQPFVNSRG SVRGCTRGGR LITNSYRSPG GYKGFDTYRG
LPSISNGNYS QLQFQAREYS GAPYSQRDNF QQCYKRGGTS GGPRANSRAG WSDSSQVSSP
ERDNETFNSG DSGQGDSRSM TPVDVPVTNP AATILPVHVY PLPQQMRVAF SAARTSNLAP
GTLDQPIVFD LLLNNLGETF DLQLGRFNCP VNGTYVFIFH MLKLAVNVPL YVNLMKNEEV
LVSAYANDGA PDHETASNHA ILQLFQGDQI WLRLHRGAIY GSSWKYSTFS GYLLYQD*
speed 0.75 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