Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0105852155417022 (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 ENST00000264160
Genbank transcript ID NM_015361
UniProt peptide Q15032
alteration type single base exchange
alteration region CDS
DNA changes c.808A>G
cDNA.1178A>G
g.104634A>G
AA changes M270V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 270
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      270DNSSFDKDDNQMRIRLKDDRRSKS
mutated  all conserved    270DNSSFDKDDNQVRIRLKDDRRSK
Ptroglodytes  all identical  ENSPTRG00000012494  270DNSSFDKDDNQMRIRLKDDRRSK
Mmulatta  not conserved  ENSMMUG00000009844  168VAAYFGLDHNV-------DQSGK
Fcatus  no alignment  ENSFCAG00000019217  n/a
Mmusculus  all identical  ENSMUSG00000056211  270DNSSFDKDDSQMRIRLKDDRRSK
Ggallus  all identical  ENSGALG00000012246  270DNSSLDKDDNQMRIRLKDDRRSK
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000063141  211DNSSLDQDDGRLRMRLKDDRRSK
Dmelanogaster  not conserved  FBgn0004875  543DTHSFDEVRQSPYLCPLSLDRKAK
Celegans  not conserved  ZK121.2  263QNTCGSR---------------K
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
251301DOMAINSUZ.lost
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 3300 / 3300
position (AA) of stopcodon in wt / mu AA sequence 1100 / 1100
position of stopcodon in wt / mu cDNA 3670 / 3670
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 371 / 371
chromosome 2
strand 1
last intron/exon boundary 3315
theoretical NMD boundary in CDS 2894
length of CDS 3300
coding sequence (CDS) position 808
cDNA position
(for ins/del: last normal base / first normal base)		 1178
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 MRMSDTVTVK DETATMKDLE AEVKDTTRVE NLIKSENYGK ILVEKNEHCI ENNIDLQRPL
QSFGQTGKRS KSSSKLKLVR SLAVCEESPP PPAPEISQEN QEKIQIQLTQ SFEKEEKPSK
DEAEKEKASD KLPRKMLSRD SSQEYTDSTG IDLHEFLVNT LKNNPRDRMM LLKLEQEILD
FIGNNESPRK KFPPMTSYHR MLLHRVAAYF GLDHNVDQSG KSVIVNKTSN TRIPDQKFNE
HIKDDKGEDF QKRYILKRDN SSFDKDDNQM RIRLKDDRRS KSIEEREEEY QRARDRIFSQ
DSLCSQENYI IDKRLQDEDA SSTQQRRQIF RVNKDASGRS TNSHQSSTEN ELKYSEPRPW
SSTDSDSSLR NLKPAVTKAS SFSGISVLTR GDSSGSSKSI GRLSKTGSES SGSVGSSTGS
LSHIQQPLPG TALSQSSHGA PVVYPTVSTH SSLSFDGGLN GQVASPSTSF FLLPLEAAGI
PPGSILINPQ TGQPFINPDG SPVVYNPPMT QQPVRSQVPG PPQPPLPAPP QQPAANHIFS
QDNLGSQFSH MSLARQPSAD GSDPHAAMFQ STVVLQSPQQ SGYIMTAAPP PHPPPPPPPP
PPPPPLPPGQ PVPTAGYPAS GHPVSQPVLQ QQGYIQQPSP QMPACYCAPG HYHSSQPQYR
PVPSVHYNSH LNQPLPQPAQ QTGYQVIPNQ QQNYQGIVGV QQPQSQSLVS GQPNSIGNQI
QGVVIPYTSV PTYQVSLPQG SQGIPHQTYQ QPVMFPNQSN QGSMPTTGMP VYYSVIPPGQ
QNNLSSSVGY LQHPGSEQVQ FPRTTSPCSS QQLQGHQCTA GPPPPPGGGM VMMQLSVPNN
PQSCAHSPPQ WKQNKYYCDH QRGQKCVEFS SVDNIVQHSP QLSSPIISPA QSPAPAQLST
LKTVRPSGPP LSIMPQFSRP FVPGQGDSRY PLLGQPLQYN PPAVLHGHIP NQQGQPGSRH
GNRGRRQAKK AASTDLGAGE TVVGKVLEIT ELPDGITRME AEKLFGELFK IGAKIRWLRD
PQSQPRRHPL CCGSGDNTAN PERSKPSDLA STYTVLATFP SISAAQNALK KQINSVNKFK
LRTSKKHYDF HILERASSQ*
mutated AA sequence MRMSDTVTVK DETATMKDLE AEVKDTTRVE NLIKSENYGK ILVEKNEHCI ENNIDLQRPL
QSFGQTGKRS KSSSKLKLVR SLAVCEESPP PPAPEISQEN QEKIQIQLTQ SFEKEEKPSK
DEAEKEKASD KLPRKMLSRD SSQEYTDSTG IDLHEFLVNT LKNNPRDRMM LLKLEQEILD
FIGNNESPRK KFPPMTSYHR MLLHRVAAYF GLDHNVDQSG KSVIVNKTSN TRIPDQKFNE
HIKDDKGEDF QKRYILKRDN SSFDKDDNQV RIRLKDDRRS KSIEEREEEY QRARDRIFSQ
DSLCSQENYI IDKRLQDEDA SSTQQRRQIF RVNKDASGRS TNSHQSSTEN ELKYSEPRPW
SSTDSDSSLR NLKPAVTKAS SFSGISVLTR GDSSGSSKSI GRLSKTGSES SGSVGSSTGS
LSHIQQPLPG TALSQSSHGA PVVYPTVSTH SSLSFDGGLN GQVASPSTSF FLLPLEAAGI
PPGSILINPQ TGQPFINPDG SPVVYNPPMT QQPVRSQVPG PPQPPLPAPP QQPAANHIFS
QDNLGSQFSH MSLARQPSAD GSDPHAAMFQ STVVLQSPQQ SGYIMTAAPP PHPPPPPPPP
PPPPPLPPGQ PVPTAGYPAS GHPVSQPVLQ QQGYIQQPSP QMPACYCAPG HYHSSQPQYR
PVPSVHYNSH LNQPLPQPAQ QTGYQVIPNQ QQNYQGIVGV QQPQSQSLVS GQPNSIGNQI
QGVVIPYTSV PTYQVSLPQG SQGIPHQTYQ QPVMFPNQSN QGSMPTTGMP VYYSVIPPGQ
QNNLSSSVGY LQHPGSEQVQ FPRTTSPCSS QQLQGHQCTA GPPPPPGGGM VMMQLSVPNN
PQSCAHSPPQ WKQNKYYCDH QRGQKCVEFS SVDNIVQHSP QLSSPIISPA QSPAPAQLST
LKTVRPSGPP LSIMPQFSRP FVPGQGDSRY PLLGQPLQYN PPAVLHGHIP NQQGQPGSRH
GNRGRRQAKK AASTDLGAGE TVVGKVLEIT ELPDGITRME AEKLFGELFK IGAKIRWLRD
PQSQPRRHPL CCGSGDNTAN PERSKPSDLA STYTVLATFP SISAAQNALK KQINSVNKFK
LRTSKKHYDF HILERASSQ*
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