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
  • 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 ENST00000370992
Genbank transcript ID NM_015179
UniProt peptide Q5JTH9
alteration type single base exchange
alteration region CDS
DNA changes c.3433G>A
cDNA.3545G>A
g.35179G>A
AA changes G1145S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1145
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      1145PGPGRGRKKDHGFKVSADGRLIIR
mutated  not conserved    1145KKDHSFKVSADGRLII
Ptroglodytes  all identical  ENSPTRG00000002806  1145KKDHGFKVSADGRLII
Mmulatta  all identical  ENSMMUG00000019634  1141RKKDHGFKVSADGRLII
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035049  1144KKRDHGFKLSADGRLII
Ggallus  not conserved  ENSGALG00000007603  1029PSLKKSRGVKHDFQVSEDGRLII
Trubripes  all identical  ENSTRUG00000012017  1133KSSKVEHGFKVTSDGRLII
Drerio  all identical  ENSDARG00000022410  1135ATKADHGFKVTSDGRLII
Dmelanogaster  all identical  FBgn0030504  1195LPNGGFKTADDGRLII
Celegans  all identical  Y46E12BL.2  1159PAILEKRKKKALERRQKVEAGFQFSKDGKMIV
Xtropicalis  not conserved  ENSXETG00000003430  1144DGKSTKLKHDFKTSSDGRLII
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3894 / 3894
position (AA) of stopcodon in wt / mu AA sequence 1298 / 1298
position of stopcodon in wt / mu cDNA 4006 / 4006
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 113 / 113
chromosome 10
strand -1
last intron/exon boundary 3904
theoretical NMD boundary in CDS 3741
length of CDS 3894
coding sequence (CDS) position 3433
cDNA position
(for ins/del: last normal base / first normal base)		 3545
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 LMTTMEAVES PESLAAVAYL LNLVLKRVPS
PVLIKKFSDT SKAFMDIMSA QASSGSTSVL RWVLSCLATL LRKQDLEAWG YPVTLQVYHG
LLSFTVHPKP KIRKAAQHGV 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 LMTTMEAVES PESLAAVAYL LNLVLKRVPS
PVLIKKFSDT SKAFMDIMSA QASSGSTSVL RWVLSCLATL LRKQDLEAWG YPVTLQVYHG
LLSFTVHPKP KIRKAAQHGV 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 0.98 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