Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 2.86421754662291e-05 (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 ENST00000414986
Genbank transcript ID NM_001145114
UniProt peptide Q5JTH9
alteration type single base exchange
alteration region CDS
DNA changes c.3250G>A
cDNA.3389G>A
g.35179G>A
AA changes G1084S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1084
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      1084PGPGRGRKKDHGFKVSADGRLIIR
mutated  not conserved    1084KDHSFKVSADGRLII
Ptroglodytes  all identical  ENSPTRG00000002806  1145PGPGRGRKKDHGFKVSADGRLII
Mmulatta  all identical  ENSMMUG00000019634  1141HGFKVSADGRLII
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035049  1144PGPGRGKKRDHGFKLSADGRLII
Ggallus  not conserved  ENSGALG00000007603  1029PSLKKSRGVKHDFQVSEDGRLII
Trubripes  all identical  ENSTRUG00000012017  1133KSSKVEHGFKVTSDGRLII
Drerio  all identical  ENSDARG00000022410  1135PNLKKATKADHGFKVTSDGRLII
Dmelanogaster  all identical  FBgn0030504  1190ATPAQSQKTKAQLPNGGFKTADDGRLII
Celegans  all identical  Y46E12BL.2  1159PAILEKRKKKALERRQKVEAGFQFSKDGKMIV
Xtropicalis  not conserved  ENSXETG00000003430  1145P-DGKSTKLKHDFKTSSDGRLII
protein features
start (aa)end (aa)featuredetails 
10541090COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3711 / 3711
position (AA) of stopcodon in wt / mu AA sequence 1237 / 1237
position of stopcodon in wt / mu cDNA 3850 / 3850
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 140 / 140
chromosome 10
strand -1
last intron/exon boundary 3748
theoretical NMD boundary in CDS 3558
length of CDS 3711
coding sequence (CDS) position 3250
cDNA position
(for ins/del: last normal base / first normal base)		 3389
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 MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LVLSCLATLL RKQDLEAWGY PVTLQVYHGL
LSFTVHPKPK IRKAAQHGVC SVLKGSEFMF EKAPAHHPAA ISTAKFCIQE IEKSGGSKEA
TTTLHMLTLL KDLLPCFPEG LVKSCSETLL RVMTLSHVLV TACAMQAFHS LFHARPGLST
LSAELNAQII TALYDYVPSE NDLQPLLAWL KVMEKAHINL VRLQWDLGLG HLPRFFGTAV
TCLLSPHSQV LTAATQSLKE ILKECVAPHM ADIGSVTSSA SGPAQSVAKM FRAVEEGLTY
KFHAAWSSVL QLLCVFFEAC GRQAHPVMRK CLQSLCDLRL SPHFPHTAAL DQAVGAAVTS
MGPEVVLQAV PLEIDGSEET LDFPRSWLLP VIRDHVQETR LGFFTTYFLP LANTLKSKAM
DLAQAGSTVE SKIYDTLQWQ MWTLLPGFCT RPTDVAISFK GLARTLGMAI SERPDLRVTV
CQALRTLITK GCQAEADRAE VSRFAKNFLP ILFNLYGQPV AAGDTPAPRR AVLETIRTYL
TITDTQLVNS LLEKASEKVL DPASSDFTRL SVLDLVVALA PCADEAAISK LYSTIRPYLE
SKAHGVQKKA YRVLEEVCAS PQGPGALFVQ SHLEDLKKTL LDSLRSTSSP AKRPRLKCLL
HIVRKLSAEH KEFITALIPE VILCTKEVSV GARKNAFALL VEMGHAFLRF GSNQEEALQC
YLVLIYPGLV GAVTMVSCSI LALTHLLFEF KGLMGTSTVE QLLENVCLLL ASRTRDVVKS
ALGFIKVAVT VMDVAHLAKH VQLVMEAIGK LSDDMRRHFR MKLRNLFTKF IRKFGFELVK
RLLPEEYHRV LVNIRKAEAR AKRHRALSQA AVEEEEEEEE EEEPAQGKGD SIEEILADSE
DEEDNEEEER SRGKEQRKLA RQRSRAWLKE GGGDEPLNFL DPKVAQRVLA TQPGPGRGRK
KDHGFKVSAD GRLIIREEAD GNKMEEEEGA KGEDEEMADP MEDVIIRNKK HQKLKHQKEA
EEEELEIPPQ YQAGGSGIHR PVAKKAMPGA EYKAKKAKGD VKKKGRPDPY AYIPLNRSKL
NRRKKMKLQG QFKGLVKAAR RGSQVGHKNR RKDRRP*
mutated AA sequence MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LVLSCLATLL RKQDLEAWGY PVTLQVYHGL
LSFTVHPKPK IRKAAQHGVC SVLKGSEFMF EKAPAHHPAA ISTAKFCIQE IEKSGGSKEA
TTTLHMLTLL KDLLPCFPEG LVKSCSETLL RVMTLSHVLV TACAMQAFHS LFHARPGLST
LSAELNAQII TALYDYVPSE NDLQPLLAWL KVMEKAHINL VRLQWDLGLG HLPRFFGTAV
TCLLSPHSQV LTAATQSLKE ILKECVAPHM ADIGSVTSSA SGPAQSVAKM FRAVEEGLTY
KFHAAWSSVL QLLCVFFEAC GRQAHPVMRK CLQSLCDLRL SPHFPHTAAL DQAVGAAVTS
MGPEVVLQAV PLEIDGSEET LDFPRSWLLP VIRDHVQETR LGFFTTYFLP LANTLKSKAM
DLAQAGSTVE SKIYDTLQWQ MWTLLPGFCT RPTDVAISFK GLARTLGMAI SERPDLRVTV
CQALRTLITK GCQAEADRAE VSRFAKNFLP ILFNLYGQPV AAGDTPAPRR AVLETIRTYL
TITDTQLVNS LLEKASEKVL DPASSDFTRL SVLDLVVALA PCADEAAISK LYSTIRPYLE
SKAHGVQKKA YRVLEEVCAS PQGPGALFVQ SHLEDLKKTL LDSLRSTSSP AKRPRLKCLL
HIVRKLSAEH KEFITALIPE VILCTKEVSV GARKNAFALL VEMGHAFLRF GSNQEEALQC
YLVLIYPGLV GAVTMVSCSI LALTHLLFEF KGLMGTSTVE QLLENVCLLL ASRTRDVVKS
ALGFIKVAVT VMDVAHLAKH VQLVMEAIGK LSDDMRRHFR MKLRNLFTKF IRKFGFELVK
RLLPEEYHRV LVNIRKAEAR AKRHRALSQA AVEEEEEEEE EEEPAQGKGD SIEEILADSE
DEEDNEEEER SRGKEQRKLA RQRSRAWLKE GGGDEPLNFL DPKVAQRVLA TQPGPGRGRK
KDHSFKVSAD GRLIIREEAD GNKMEEEEGA KGEDEEMADP MEDVIIRNKK HQKLKHQKEA
EEEELEIPPQ YQAGGSGIHR PVAKKAMPGA EYKAKKAKGD VKKKGRPDPY AYIPLNRSKL
NRRKKMKLQG QFKGLVKAAR RGSQVGHKNR RKDRRP*
speed 1.00 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