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
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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 ENST00000308433
Genbank transcript ID N/A
UniProt peptide Q6IMN6
alteration type single base exchange
alteration region CDS
DNA changes c.556A>G
cDNA.2223A>G
g.26077A>G
AA changes M186V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 186
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      186KKQTPKSWTPSMQSEQNTTKSWTT
mutated  all conserved    186SWTPSVQSEQNTTKSWT
Ptroglodytes  all conserved  ENSPTRG00000004802  519SWTPSLQSEQNTTKSWT
Mmulatta  all conserved  ENSMMUG00000001359  518SWTPSVQSEQNTTKSWT
Fcatus  all conserved  ENSFCAG00000007004  517KKQSPKSWTPSVQNEQDITKSWT
Mmusculus  all conserved  ENSMUSG00000030309  427GSWAVSVQSEQSGSRSWT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0042134  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000007516  359-----KPVVPKFPSEVKPVA
protein features
start (aa)end (aa)featuredetails 
194216COILEDPotential.might get lost (downstream of altered splice site)
298298CONFLICTY -> D (in Ref. 4; BAB13830).might get lost (downstream of altered splice site)
320320CONFLICTP -> S (in Ref. 5; AAK83153).might get lost (downstream of altered splice site)
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 2382 / 2382
position (AA) of stopcodon in wt / mu AA sequence 794 / 794
position of stopcodon in wt / mu cDNA 4049 / 4049
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 1668 / 1668
chromosome 12
strand -1
last intron/exon boundary 3481
theoretical NMD boundary in CDS 1763
length of CDS 2382
coding sequence (CDS) position 556
cDNA position
(for ins/del: last normal base / first normal base)		 2223
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 MLIQSEKKTQ LSKTESVKES ESLMEFAQPE IQPQEFLNRR YMTEVDYSNK QGEEQPWEAD
YARKPNLPKR WDMLTEPDGQ EKKQESFKSW EASGKHQEVS KPAVSLEQRK QDTSKLRSTL
PEEQKKQEIS KSKPSPSQWK QDTPKSKAGY VQEEQKKQET PKLWPVQLQK EQDPKKQTPK
SWTPSMQSEQ NTTKSWTTPM CEEQDSKQPE TPKSWENNVE SQKHSLTSQS QISPKSWGVA
TASLIPNDQL LPRKLNTEPK DVPKPVHQPV GSSSTLPKDP VLRKEKLQDL MTQIQGTCNF
MQESVLDFDK PSSAIPTSQP PSATPGSPVA SKEQNLSSQS DFLQEPLQAT SSPVTCSSNA
CLVTTDQASS GSETEFMTSE TPEAAIPPGK QPSSLASPNP PMAKGSEQGF QSPPASSSSV
TINTAPFQAM QTVFNVNAPL PPRKEQEIKE SPYSPGYNQS FTTASTQTPP QCQLPSIHVE
QTVHSQETAN YHPDGTIQVS NGSLAFYPAQ TNVFPRPTQP FVNSRGSVRG CTRGGRLITN
SYRSPGGYKG FDTYRGLPSI SNGNYSQLQF QAREYSGAPY SQRDNFQQCY KRGGTSGGPR
ANSRAGWSDS SQVSSPERDN ETFNSGDSGQ GDSRSMTPVD VPVTNPAATI LPVHVYPLPQ
QMRVAFSAAR TSNLAPGTLD QPIVFDLLLN NLGETFDLQL GRFNCPVNGT YVFIFHMLKL
AVNVPLYVNL MKNEEVLVSA YANDGAPDHE TASNHAILQL FQGDQIWLRL HRGAIYGSSW
KYSTFSGYLL YQD*
mutated AA sequence MLIQSEKKTQ LSKTESVKES ESLMEFAQPE IQPQEFLNRR YMTEVDYSNK QGEEQPWEAD
YARKPNLPKR WDMLTEPDGQ EKKQESFKSW EASGKHQEVS KPAVSLEQRK QDTSKLRSTL
PEEQKKQEIS KSKPSPSQWK QDTPKSKAGY VQEEQKKQET PKLWPVQLQK EQDPKKQTPK
SWTPSVQSEQ NTTKSWTTPM CEEQDSKQPE TPKSWENNVE SQKHSLTSQS QISPKSWGVA
TASLIPNDQL LPRKLNTEPK DVPKPVHQPV GSSSTLPKDP VLRKEKLQDL MTQIQGTCNF
MQESVLDFDK PSSAIPTSQP PSATPGSPVA SKEQNLSSQS DFLQEPLQAT SSPVTCSSNA
CLVTTDQASS GSETEFMTSE TPEAAIPPGK QPSSLASPNP PMAKGSEQGF QSPPASSSSV
TINTAPFQAM QTVFNVNAPL PPRKEQEIKE SPYSPGYNQS FTTASTQTPP QCQLPSIHVE
QTVHSQETAN YHPDGTIQVS NGSLAFYPAQ TNVFPRPTQP FVNSRGSVRG CTRGGRLITN
SYRSPGGYKG FDTYRGLPSI SNGNYSQLQF QAREYSGAPY SQRDNFQQCY KRGGTSGGPR
ANSRAGWSDS SQVSSPERDN ETFNSGDSGQ GDSRSMTPVD VPVTNPAATI LPVHVYPLPQ
QMRVAFSAAR TSNLAPGTLD QPIVFDLLLN NLGETFDLQL GRFNCPVNGT YVFIFHMLKL
AVNVPLYVNL MKNEEVLVSA YANDGAPDHE TASNHAILQL FQGDQIWLRL HRGAIYGSSW
KYSTFSGYLL YQD*
speed 0.28 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