Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 7.14339944245957e-06 (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) chr10:99125949C>TN/A show variant in all transcripts   IGV
HGNC symbol RRP12
Ensembl transcript ID ENST00000536831
Genbank transcript ID N/A
UniProt peptide Q5JTH9
alteration type single base exchange
alteration region CDS
DNA changes c.2587G>A
cDNA.2640G>A
g.35179G>A
AA changes G863S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 863
frameshift no
known variant Reference ID: rs2275580
databasehomozygous (T/T)heterozygousallele carriers
1000G49110011492
ExAC18279-379114488
regulatory features H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3271
3.4970.998
(flanking)-1.0180.531
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased35181wt: 0.76 / mu: 0.92wt: CACGGCTTCAAGGTG
mu: CACAGCTTCAAGGTG		 CGGC|ttca
Donor gained351790.37mu: ACCACAGCTTCAAGG CACA|gctt
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      863PGPGRGRKKDHGFKVSADGRLIIR
mutated  not conserved    863PGPGRGRKKDHSFKVSADGRLII
Ptroglodytes  all identical  ENSPTRG00000002806  1145PGPGRGRKKDHGFKVSADGRLII
Mmulatta  all identical  ENSMMUG00000019634  1141PGPGRGRKKDHGFKVSADGRLII
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035049  1144PGPGRGKKRDHGFKLSADGRLII
Ggallus  not conserved  ENSGALG00000007603  1029PSLKKSRGVKHDFQVSEDGRLII
Trubripes  all identical  ENSTRUG00000012017  1133PAQKKSSKVEHGFKVTSDGRLII
Drerio  all identical  ENSDARG00000022410  1135PNLKKATKADHGFKVTSDGRLII
Dmelanogaster  all identical  FBgn0030504  1196GFKTADDGRLII
Celegans  all identical  Y46E12BL.2  1161PAILEKRKKKALERRQKVEAGFQFSKDGKMIVLGDD
Xtropicalis  not conserved  ENSXETG00000003430  1145P-DGKSTKLKHDFKTSSDGRLII
protein features
start (aa)end (aa)featuredetails 
903923TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10491049MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10541090COMPBIASGlu-rich.might get lost (downstream of altered splice site)
10721072MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10801080MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3048 / 3048
position (AA) of stopcodon in wt / mu AA sequence 1016 / 1016
position of stopcodon in wt / mu cDNA 3101 / 3101
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 54 / 54
chromosome 10
strand -1
last intron/exon boundary 2999
theoretical NMD boundary in CDS 2895
length of CDS 3048
coding sequence (CDS) position 2587
cDNA position
(for ins/del: last normal base / first normal base)		 2640
gDNA position
(for ins/del: last normal base / first normal base)		 35179
chromosomal position
(for ins/del: last normal base / first normal base)		 99125949
original gDNA sequence snippet GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT
altered gDNA sequence snippet GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT
original cDNA sequence snippet GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT
altered cDNA sequence snippet GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT
wildtype AA sequence MDIMSAQASS GSTSVLRWVL SCLATLLRKQ DLEAWGYPVT LQVYHGLLSF TVHPKPKLVT
ACAMQAFHSL FHARPGLSTL SAELNAQIIT ALYDYVPSEN DLQPLLAWLK VMEKAHINLV
RLQWDLGLGH LPRFFGTAVT CLLSPHSQVL TAATQSLKEI LKECVAPHMA DIGSVTSSAS
GPAQSVAKMF RAVEEGLTYK FHAAWSSVLQ LLCVFFEACG RQAHPVMRKC LQSLCDLRLS
PHFPHTAALD QAVGAAVTSM GPEVVLQAVP LEIDGSEETL DFPRSWLLPV IRDHVQETRL
GFFTTYFLPL ANTLKSKAMD LAQAGSTVES KIYDTLQWQM WTLLPGFCTR PTDVAISFKG
LARTLGMAIS ERPDLRVTVC QALRTLITKG CQAEADRAEV SRFAKNFLPI LFNLYGQPVA
AGDTPAPRRA VLETIRTYLT ITDTQLVNSL LEKASEKVLD PASSDFTRLS VLDLVVALAP
CADEAAISKL YSTIRPYLES KAHGVQKKAY RVLEEVCASP QGPGALFVQS HLEDLKKTLL
DSLRSTSSPA KRPRLKCLLH IVRKLSAEHK EFITALIPEV ILCTKEVSVG ARKNAFALLV
EMGHAFLRFG SNQEEALQCY LVLIYPGLVG AVTMVSCSIL ALTHLLFEFK GLMGTSTVEQ
LLENVCLLLA SRTRDVVKSA LGFIKVAVTV MDVAHLAKHV QLVMEAIGKL SDDMRRHFRM
KLRNLFTKFI RKFGFELVKR LLPEEYHRVL VNIRKAEARA KRHRALSQAA VEEEEEEEEE
EEPAQGKGDS IEEILADSED EEDNEEEERS RGKEQRKLAR QRSRAWLKEG GGDEPLNFLD
PKVAQRVLAT QPGPGRGRKK DHGFKVSADG RLIIREEADG NKMEEEEGAK GEDEEMADPM
EDVIIRNKKH QKLKHQKEAE EEELEIPPQY QAGGSGIHRP VAKKAMPGAE YKAKKAKGDV
KKKGRPDPYA YIPLNRSKLN RRKKMKLQGQ FKGLVKAARR GSQVGHKNRR KDRRP*
mutated AA sequence MDIMSAQASS GSTSVLRWVL SCLATLLRKQ DLEAWGYPVT LQVYHGLLSF TVHPKPKLVT
ACAMQAFHSL FHARPGLSTL SAELNAQIIT ALYDYVPSEN DLQPLLAWLK VMEKAHINLV
RLQWDLGLGH LPRFFGTAVT CLLSPHSQVL TAATQSLKEI LKECVAPHMA DIGSVTSSAS
GPAQSVAKMF RAVEEGLTYK FHAAWSSVLQ LLCVFFEACG RQAHPVMRKC LQSLCDLRLS
PHFPHTAALD QAVGAAVTSM GPEVVLQAVP LEIDGSEETL DFPRSWLLPV IRDHVQETRL
GFFTTYFLPL ANTLKSKAMD LAQAGSTVES KIYDTLQWQM WTLLPGFCTR PTDVAISFKG
LARTLGMAIS ERPDLRVTVC QALRTLITKG CQAEADRAEV SRFAKNFLPI LFNLYGQPVA
AGDTPAPRRA VLETIRTYLT ITDTQLVNSL LEKASEKVLD PASSDFTRLS VLDLVVALAP
CADEAAISKL YSTIRPYLES KAHGVQKKAY RVLEEVCASP QGPGALFVQS HLEDLKKTLL
DSLRSTSSPA KRPRLKCLLH IVRKLSAEHK EFITALIPEV ILCTKEVSVG ARKNAFALLV
EMGHAFLRFG SNQEEALQCY LVLIYPGLVG AVTMVSCSIL ALTHLLFEFK GLMGTSTVEQ
LLENVCLLLA SRTRDVVKSA LGFIKVAVTV MDVAHLAKHV QLVMEAIGKL SDDMRRHFRM
KLRNLFTKFI RKFGFELVKR LLPEEYHRVL VNIRKAEARA KRHRALSQAA VEEEEEEEEE
EEPAQGKGDS IEEILADSED EEDNEEEERS RGKEQRKLAR QRSRAWLKEG GGDEPLNFLD
PKVAQRVLAT QPGPGRGRKK DHSFKVSADG RLIIREEADG NKMEEEEGAK GEDEEMADPM
EDVIIRNKKH QKLKHQKEAE EEELEIPPQY QAGGSGIHRP VAKKAMPGAE YKAKKAKGDV
KKKGRPDPYA YIPLNRSKLN RRKKMKLQGQ FKGLVKAARR GSQVGHKNRR KDRRP*
speed 0.97 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