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 ENST00000315563
Genbank transcript ID N/A
UniProt peptide Q5JTH9
alteration type single base exchange
alteration region CDS
DNA changes c.3133G>A
cDNA.3185G>A
g.35179G>A
AA changes G1045S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1045
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      1045PGPGRGRKKDHGFKVSADGRLIIR
mutated  not conserved    1045PGPGRGRKKDHSFKVSADGRLII
Ptroglodytes  all identical  ENSPTRG00000002806  1145PGPGRGRKKDHGFKVSADGRLII
Mmulatta  all identical  ENSMMUG00000019634  1141PGPGRGRKKDHGFKVS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035049  1144PGPGRGKKRDHGFKLSA
Ggallus  not conserved  ENSGALG00000007603  1029PSLKKSRGVKHDFQVSE
Trubripes  all identical  ENSTRUG00000012017  1133PAQKKSSKVEHGFKVTSDGRLII
Drerio  all identical  ENSDARG00000022410  1137PNLKKATKADHGFKVT
Dmelanogaster  all identical  FBgn0030504  1187ATPAQSQKTKAQLPNGGFKTADDGRLII
Celegans  all identical  Y46E12BL.2  1161PAILEKRKKKALERRQKVEAGFQFSKDGKMIVLGDD
Xtropicalis  not conserved  ENSXETG00000003430  1147P-DGKSTKLKHDFK
protein features
start (aa)end (aa)featuredetails 
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 3594 / 3594
position (AA) of stopcodon in wt / mu AA sequence 1198 / 1198
position of stopcodon in wt / mu cDNA 3646 / 3646
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 53 / 53
chromosome 10
strand -1
last intron/exon boundary 3544
theoretical NMD boundary in CDS 3441
length of CDS 3594
coding sequence (CDS) position 3133
cDNA position
(for ins/del: last normal base / first normal base)		 3185
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 LIRKAAQHGV CSVLKGSEFM FEKAPAHHPA
AISTAKFCIQ EIEKSGGSKE ATTTLHMLTL LKDLLPCFPE GLVKSCSETL LRVMTLSHVL
VTACAMQAFH SLFHARPGLS TLSAELNAQI ITALYDYVPS ENDLQPLLAW LKVMEKAHIN
LVRLQWDLGL GHLPRFFGTA VTCLLSPHSQ VLTAATQSLK EILKECVAPH MADIGSVTSS
ASGPAQSVAK MFRAVEEGLT YKFHAAWSSV LQLLCVFFEA CGRQAHPVMR KCLQSLCDLR
LSPHFPHTAA LDQAVGAAVT SMGPEVVLQA VPLEIDGSEE TLDFPRSWLL PVIRDHVQET
RLGFFTTYFL PLANTLKSKA MDLAQAGSTV ESKIYDTLQW QMWTLLPGFC TRPTDVAISF
KGLARTLGMA ISERPDLRVT VCQALRTLIT KGCQAEADRA EVSRFAKNFL PILFNLYGQP
VAAGDTPAPR RAVLETIRTY LTITDTQLVN SLLEKASEKV LDPASSDFTR LSVLDLVVAL
APCADEAAIS KLYSTIRPYL ESKAHGVQKK AYRVLEEVCA SPQGPGALFV QSHLEDLKKT
LLDSLRSTSS PAKRPRLKCL LHIVRKLSAE HKEFITALIP EVILCTKEVS VGARKNAFAL
LVEMGHAFLR FGSNQEEALQ CYLVLIYPGL VGAVTMVSCS ILALTHLLFE FKGLMGTSTV
EQLLENVCLL LASRTRDVVK SALGFIKVAV TVMDVAHLAK HVQLVMEAIG KLSDDMRRHF
RMKLRNLFTK FIRKFGFELV KRLLPEEYHR VLVNIRKAEA RAKRHRALSQ AAVEEEEEEE
EEEEPAQGKG DSIEEILADS EDEEDNEEEE RSRGKEQRKL ARQRSRAWLK EGGGDEPLNF
LDPKVAQRVL ATQPGPGRGR KKDHGFKVSA DGRLIIREEA DGNKMEEEEG AKGEDEEMAD
PMEDVIIRNK KHQKLKHQKE AEEEELEIPP QYQAGGSGIH RPVAKKAMPG AEYKAKKAKG
DVKKKGRPDP YAYIPLNRSK LNRRKKMKLQ GQFKGLVKAA RRGSQVGHKN RRKDRRP*
mutated AA sequence MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LIRKAAQHGV CSVLKGSEFM FEKAPAHHPA
AISTAKFCIQ EIEKSGGSKE ATTTLHMLTL LKDLLPCFPE GLVKSCSETL LRVMTLSHVL
VTACAMQAFH SLFHARPGLS TLSAELNAQI ITALYDYVPS ENDLQPLLAW LKVMEKAHIN
LVRLQWDLGL GHLPRFFGTA VTCLLSPHSQ VLTAATQSLK EILKECVAPH MADIGSVTSS
ASGPAQSVAK MFRAVEEGLT YKFHAAWSSV LQLLCVFFEA CGRQAHPVMR KCLQSLCDLR
LSPHFPHTAA LDQAVGAAVT SMGPEVVLQA VPLEIDGSEE TLDFPRSWLL PVIRDHVQET
RLGFFTTYFL PLANTLKSKA MDLAQAGSTV ESKIYDTLQW QMWTLLPGFC TRPTDVAISF
KGLARTLGMA ISERPDLRVT VCQALRTLIT KGCQAEADRA EVSRFAKNFL PILFNLYGQP
VAAGDTPAPR RAVLETIRTY LTITDTQLVN SLLEKASEKV LDPASSDFTR LSVLDLVVAL
APCADEAAIS KLYSTIRPYL ESKAHGVQKK AYRVLEEVCA SPQGPGALFV QSHLEDLKKT
LLDSLRSTSS PAKRPRLKCL LHIVRKLSAE HKEFITALIP EVILCTKEVS VGARKNAFAL
LVEMGHAFLR FGSNQEEALQ CYLVLIYPGL VGAVTMVSCS ILALTHLLFE FKGLMGTSTV
EQLLENVCLL LASRTRDVVK SALGFIKVAV TVMDVAHLAK HVQLVMEAIG KLSDDMRRHF
RMKLRNLFTK FIRKFGFELV KRLLPEEYHR VLVNIRKAEA RAKRHRALSQ AAVEEEEEEE
EEEEPAQGKG DSIEEILADS EDEEDNEEEE RSRGKEQRKL ARQRSRAWLK EGGGDEPLNF
LDPKVAQRVL ATQPGPGRGR KKDHSFKVSA DGRLIIREEA DGNKMEEEEG AKGEDEEMAD
PMEDVIIRNK KHQKLKHQKE AEEEELEIPP QYQAGGSGIH RPVAKKAMPG AEYKAKKAKG
DVKKKGRPDP YAYIPLNRSK LNRRKKMKLQ GQFKGLVKAA RRGSQVGHKN RRKDRRP*
speed 0.95 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