Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0105852155417023 (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) chr2:136393658A>GN/A show variant in all transcripts   IGV
HGNC symbol R3HDM1
Ensembl transcript ID ENST00000410054
Genbank transcript ID N/A
UniProt peptide Q15032
alteration type single base exchange
alteration region CDS
DNA changes c.640A>G
cDNA.971A>G
g.104634A>G
AA changes M214V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 214
frameshift no
known variant Reference ID: rs961360
databasehomozygous (G/G)heterozygousallele carriers
1000G26610171283
ExAC43922029424686
regulatory features H3K27me1, Histone, Histone 3 Lysine 27 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.7351
3.1131
(flanking)3.4491
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost104633sequence motif lost- wt: gtag|ATGA
 mu: gtag.GTGA
Acc increased104630wt: 0.45 / mu: 0.57wt: TAAAAATTATCCTCTTTTCTGTAGATGAGAATACGTTTGAA
mu: TAAAAATTATCCTCTTTTCTGTAGGTGAGAATACGTTTGAA		 tctg|TAGA
Acc gained1046260.33mu: TGCCTAAAAATTATCCTCTTTTCTGTAGGTGAGAATACGTT cttt|TCTG
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      214DNSSFDKDDNQMRIRLKDDRRSKS
mutated  all conserved    214DNSSFDKDDNQVRIRLKDDRRSK
Ptroglodytes  all identical  ENSPTRG00000012494  270DNSSFDKDDNQMRIRLKDDRRSK
Mmulatta  not conserved  ENSMMUG00000009844  177VAAYFGLDHNV-------DQSGK
Fcatus  no alignment  ENSFCAG00000019217  n/a
Mmusculus  all identical  ENSMUSG00000056211  270DNSSFDKDDSQMRIRLKDDRRSK
Ggallus  all identical  ENSGALG00000012246  270DNSSLDKDDNQMRIRLKDDRRSK
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000063141  211DQDDGRLRMRLKDDRRSK
Dmelanogaster  not conserved  FBgn0004875  543DTHSFDEVRQSPYLCPLSLDRKAK
Celegans  not conserved  ZK121.2  263QNTCGSR---------------K
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
168231DOMAINR3H.lost
251301DOMAINSUZ.might get lost (downstream of altered splice site)
337337MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
381381MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
541541CONFLICTQ -> QQ (in Ref. 2; BAA04878).might get lost (downstream of altered splice site)
589608COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
822826COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
973973MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3135 / 3135
position (AA) of stopcodon in wt / mu AA sequence 1045 / 1045
position of stopcodon in wt / mu cDNA 3466 / 3466
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 332 / 332
chromosome 2
strand 1
last intron/exon boundary 3111
theoretical NMD boundary in CDS 2729
length of CDS 3135
coding sequence (CDS) position 640
cDNA position
(for ins/del: last normal base / first normal base)		 971
gDNA position
(for ins/del: last normal base / first normal base)		 104634
chromosomal position
(for ins/del: last normal base / first normal base)		 136393658
original gDNA sequence snippet AATTATCCTCTTTTCTGTAGATGAGAATACGTTTGAAAGAT
altered gDNA sequence snippet AATTATCCTCTTTTCTGTAGGTGAGAATACGTTTGAAAGAT
original cDNA sequence snippet TTGACAAAGATGATAACCAGATGAGAATACGTTTGAAAGAT
altered cDNA sequence snippet TTGACAAAGATGATAACCAGGTGAGAATACGTTTGAAAGAT
wildtype AA sequence MGLLLPDYRW FTTVDILADN CEKEPWIILF YFCGTPQSQI QRTHQEKIQI QLTQSFEKEE
KPSKDEAEKE KASDKLPRKM LSRDSSQEYT DSTGIDLHEF LVNTLKNNPR DRMMLLKLEQ
EILDFIGNNE SPRKKFPPMT SYHRMLLHRV AAYFGLDHNV DQSGKSVIVN KTSNTRIPDQ
KFNEHIKDDK GEDFQKRYIL KRDNSSFDKD DNQMRIRLKD DRRSKSIEER EEEYQRARDR
IFSQDSLCSQ ENYIIDKRLQ DEDASSTQQR RQIFRVNKDA SGRSTNSHQS STENELKYSE
PRPWSSTDSD SSLRNLKPAV TKASSFSGIS VLTRGDSSGS SKSIGRLSKT GSESSGSVGS
STGSLSHIQQ PLPGTALSQS SHGAPVVYPT VSTHSSLSFD GGLNGQVASP STSFFLLPLE
AAGIPPGSIL INPQTGQPFI NPDGSPVVYN PPMTQQPVRS QVPGPPQPPL PAPPQQPAAN
HIFSQQDNLG SQFSHMSLAR QPSADGSDPH AAMFQSTVVL QSPQQSGYIM TAAPPPHPPP
PPPPPPPPPP LPPGQPVPTA GYPASGHPVS QPVLQQQGYI QQPSPQMPAC YCAPGHYHSS
QPQYRPVPSV HYNSHLNQPL PQPAQQTGYQ VIPNQQQNYQ GIVGVQQPQS QSLVSGQPNS
IGNQIQGVVI PYTSVPTYQV SLPQGSQGIP HQTYQQPVMF PNQSNQGSMP TTGMPVYYSV
IPPGQQNNLS SSVGYLQHPG SEQVQFPRTT SPCSSQQLQG HQCTAGPPPP PGGGMVMMQL
SVPNNPQSCA HSPPQWKQNK YYCDHQRGQK CVEFSSVDNI VQHSPQLSSP IISPAQSPAP
AQLSTLKTVR PSGPPLSIMP QFSRPFVPGQ GDSRYPLLGQ PLQYNPPAVL HGHIPNQQGQ
PGSRHGNRGR RQAKKAASTD LGAGETVVGK VLEITELPDG ITRMEAEKLF GELFKIGAKI
RWLRDPQSQP RRHPLCCGSG DNTANPERSK PSDLASTYTV LATFPSISAA QNALKKQINS
VNKFKLRTSK KHYDFHILER ASSQ*
mutated AA sequence MGLLLPDYRW FTTVDILADN CEKEPWIILF YFCGTPQSQI QRTHQEKIQI QLTQSFEKEE
KPSKDEAEKE KASDKLPRKM LSRDSSQEYT DSTGIDLHEF LVNTLKNNPR DRMMLLKLEQ
EILDFIGNNE SPRKKFPPMT SYHRMLLHRV AAYFGLDHNV DQSGKSVIVN KTSNTRIPDQ
KFNEHIKDDK GEDFQKRYIL KRDNSSFDKD DNQVRIRLKD DRRSKSIEER EEEYQRARDR
IFSQDSLCSQ ENYIIDKRLQ DEDASSTQQR RQIFRVNKDA SGRSTNSHQS STENELKYSE
PRPWSSTDSD SSLRNLKPAV TKASSFSGIS VLTRGDSSGS SKSIGRLSKT GSESSGSVGS
STGSLSHIQQ PLPGTALSQS SHGAPVVYPT VSTHSSLSFD GGLNGQVASP STSFFLLPLE
AAGIPPGSIL INPQTGQPFI NPDGSPVVYN PPMTQQPVRS QVPGPPQPPL PAPPQQPAAN
HIFSQQDNLG SQFSHMSLAR QPSADGSDPH AAMFQSTVVL QSPQQSGYIM TAAPPPHPPP
PPPPPPPPPP LPPGQPVPTA GYPASGHPVS QPVLQQQGYI QQPSPQMPAC YCAPGHYHSS
QPQYRPVPSV HYNSHLNQPL PQPAQQTGYQ VIPNQQQNYQ GIVGVQQPQS QSLVSGQPNS
IGNQIQGVVI PYTSVPTYQV SLPQGSQGIP HQTYQQPVMF PNQSNQGSMP TTGMPVYYSV
IPPGQQNNLS SSVGYLQHPG SEQVQFPRTT SPCSSQQLQG HQCTAGPPPP PGGGMVMMQL
SVPNNPQSCA HSPPQWKQNK YYCDHQRGQK CVEFSSVDNI VQHSPQLSSP IISPAQSPAP
AQLSTLKTVR PSGPPLSIMP QFSRPFVPGQ GDSRYPLLGQ PLQYNPPAVL HGHIPNQQGQ
PGSRHGNRGR RQAKKAASTD LGAGETVVGK VLEITELPDG ITRMEAEKLF GELFKIGAKI
RWLRDPQSQP RRHPLCCGSG DNTANPERSK PSDLASTYTV LATFPSISAA QNALKKQINS
VNKFKLRTSK KHYDFHILER ASSQ*
speed 1.13 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