Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999957289 (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) chr5:41018452A>TN/A show variant in all transcripts   IGV
HGNC symbol MROH2B
Ensembl transcript ID ENST00000506092
Genbank transcript ID N/A
UniProt peptide Q7Z745
alteration type single base exchange
alteration region CDS
DNA changes c.1419T>A
cDNA.1710T>A
g.52993T>A
AA changes N473K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 473
frameshift no
known variant Reference ID: rs10054110
databasehomozygous (T/T)heterozygousallele carriers
1000G30511211426
ExAC73591804925408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7710.023
0.4430.02
(flanking)0.4660.013
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased52988wt: 0.54 / mu: 0.99wt: TGCTGACAAATGATA
mu: TGCTGACAAAAGATA		 CTGA|caaa
Donor marginally increased52997wt: 0.8255 / mu: 0.8892 (marginal change - not scored)wt: ATGATATTGAGGTAA
mu: AAGATATTGAGGTAA		 GATA|ttga
Donor gained529930.75mu: ACAAAAGATATTGAG AAAA|gata
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      473RAFQITAKVLTNDIEAPENFKIGS
mutated  not conserved    473RAFQITAKVLTKDIEAPEN
Ptroglodytes  all identical  ENSPTRG00000016825  623RAFQITAKVLTNDIEAPG
Mmulatta  all identical  ENSMMUG00000004774  912RAFQITAKVLTNDIVA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000022155  914RAFQVTSKVLTKDVEAPQN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0040236  1027NTLDVYIKSMKIGCEAP
Celegans  not conserved  C34G6.1  1060RAVDMTVLVLRVYYECAEDISLGHASDFEPLS
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
531569REPEATHEAT 6.might get lost (downstream of altered splice site)
572611REPEATHEAT 7.might get lost (downstream of altered splice site)
624624CONFLICTA -> V (in Ref. 1; CAH18199).might get lost (downstream of altered splice site)
662699REPEATHEAT 8.might get lost (downstream of altered splice site)
777819REPEATHEAT 9.might get lost (downstream of altered splice site)
897897CONFLICTL -> P (in Ref. 4; BAC05103).might get lost (downstream of altered splice site)
9641001REPEATHEAT 10.might get lost (downstream of altered splice site)
10211059REPEATHEAT 11.might get lost (downstream of altered splice site)
10591059CONFLICTV -> L (in Ref. 5; AAP97306).might get lost (downstream of altered splice site)
10721072CONFLICTE -> D (in Ref. 5; AAP97306).might get lost (downstream of altered splice site)
11121151REPEATHEAT 12.might get lost (downstream of altered splice site)
11571195REPEATHEAT 13.might get lost (downstream of altered splice site)
11711171MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
12581295REPEATHEAT 14.might get lost (downstream of altered splice site)
13631402REPEATHEAT 15.might get lost (downstream of altered splice site)
14241424CONFLICTI -> T (in Ref. 1; CAH18199 and 5; AAP97306).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3423 / 3423
position (AA) of stopcodon in wt / mu AA sequence 1141 / 1141
position of stopcodon in wt / mu cDNA 3714 / 3714
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 292 / 292
chromosome 5
strand -1
last intron/exon boundary 3608
theoretical NMD boundary in CDS 3266
length of CDS 3423
coding sequence (CDS) position 1419
cDNA position
(for ins/del: last normal base / first normal base)		 1710
gDNA position
(for ins/del: last normal base / first normal base)		 52993
chromosomal position
(for ins/del: last normal base / first normal base)		 41018452
original gDNA sequence snippet ACTGCGAAAGTGCTGACAAATGATATTGAGGTAAGTAATCC
altered gDNA sequence snippet ACTGCGAAAGTGCTGACAAAAGATATTGAGGTAAGTAATCC
original cDNA sequence snippet ACTGCGAAAGTGCTGACAAATGATATTGAGGCACCAGAGAA
altered cDNA sequence snippet ACTGCGAAAGTGCTGACAAAAGATATTGAGGCACCAGAGAA
wildtype AA sequence MPQVLWPRIL TFVVPAEYTE ALEPLFSIIR ILIMAEEKKQ HSAKESTALV VSTGAVKLPS
PQQLLARLLV ISMPASLGEL RGAGAIGLLK ILPEIIHPKL VDLWKTRLPE LLQPLEGKNI
STVLWETMLL QLLKESLWKI SDVAWTIQLT QDFKQQMGSY SNNSTEKKFL WKALGTTLAC
CQDSDFVNSQ IKEFLTAPNQ LGDQRQGITS ILGYCAENHL DIVLKVLKTF QNQEKFFMNR
CKSLFSGKKS LTKTDVMVIY GAVALHAPKK QLLSRLNQDI ISQVLSLHGQ CSQVLGMSVM
NKDMDLQMSF TRSITEIGIA VQDAEDQGFQ FSYKEMLIGY MLDFIRDEPL DSLASPIRWK
ALIAIRYLSK LKPQLSLQDH LNILEENIRR LLPLPPLENL KSEGQTDKDK EHIQFLYERS
MDALGKLLKT MMWDNVNAED CQEMFNLLQM WLVSQKEWER ERAFQITAKV LTNDIEAPEN
FKIGSLLGLL APHSCDTLPT IRQAAASSTI GLFYIKGIHL EVERLQGLQE GLESDDVQVQ
IKISSKIAKI VSKFIPNEEI LMFLEEMLDG LESLNPTCTK ACGIWMITVL KQQGAALEDQ
LLEILGTIYH HMPVLRQKEE SFQFILEAIS QIASFHMDTV VVNLLQKPLP FDRDTKTLWK
ALAEKPASSG KLLQALIDKL ETELEDDIAR VEAISVACAM YEVISMGTSV TGLYPELFTL
LLKLVSCTLG QKMLTCPWSH RRHVMQQGEQ QQIPDPCRLS TATLKCLQAQ AMREGLAKES
DEGDNLWTLL SSPSTHHIGV CSLARSMAVW QHGVILDIME QLLSSLTSSS ENYRITGAAF
FSELMKEPIL WKHGNLRNVL ILMDQSAWDS NATLRQMAIR GLGNTASGAP HKVKKHKQLM
LESIIRGLYH LARTEVVCES LKALKKILEL LTDRDVSFYF KEIVLQTRTF FEDEQDDVRL
TAIFLFEDLA PLTGRRWKIF FAEEIKKSLI SFLLHLWDPN PKIGVACRDV LMVCIPFLGL
QELYGVLDRL LDQDLPRARD FYRQFCVKLA KKNQEILWIL HTHSFTFFTS TWEVIRSAAV
KLTDAVVLNL TSQYVELLDR EQLTTRLQAL RQDPCISVQR AAEAALQTLL RRCKETSIPL
*
mutated AA sequence MPQVLWPRIL TFVVPAEYTE ALEPLFSIIR ILIMAEEKKQ HSAKESTALV VSTGAVKLPS
PQQLLARLLV ISMPASLGEL RGAGAIGLLK ILPEIIHPKL VDLWKTRLPE LLQPLEGKNI
STVLWETMLL QLLKESLWKI SDVAWTIQLT QDFKQQMGSY SNNSTEKKFL WKALGTTLAC
CQDSDFVNSQ IKEFLTAPNQ LGDQRQGITS ILGYCAENHL DIVLKVLKTF QNQEKFFMNR
CKSLFSGKKS LTKTDVMVIY GAVALHAPKK QLLSRLNQDI ISQVLSLHGQ CSQVLGMSVM
NKDMDLQMSF TRSITEIGIA VQDAEDQGFQ FSYKEMLIGY MLDFIRDEPL DSLASPIRWK
ALIAIRYLSK LKPQLSLQDH LNILEENIRR LLPLPPLENL KSEGQTDKDK EHIQFLYERS
MDALGKLLKT MMWDNVNAED CQEMFNLLQM WLVSQKEWER ERAFQITAKV LTKDIEAPEN
FKIGSLLGLL APHSCDTLPT IRQAAASSTI GLFYIKGIHL EVERLQGLQE GLESDDVQVQ
IKISSKIAKI VSKFIPNEEI LMFLEEMLDG LESLNPTCTK ACGIWMITVL KQQGAALEDQ
LLEILGTIYH HMPVLRQKEE SFQFILEAIS QIASFHMDTV VVNLLQKPLP FDRDTKTLWK
ALAEKPASSG KLLQALIDKL ETELEDDIAR VEAISVACAM YEVISMGTSV TGLYPELFTL
LLKLVSCTLG QKMLTCPWSH RRHVMQQGEQ QQIPDPCRLS TATLKCLQAQ AMREGLAKES
DEGDNLWTLL SSPSTHHIGV CSLARSMAVW QHGVILDIME QLLSSLTSSS ENYRITGAAF
FSELMKEPIL WKHGNLRNVL ILMDQSAWDS NATLRQMAIR GLGNTASGAP HKVKKHKQLM
LESIIRGLYH LARTEVVCES LKALKKILEL LTDRDVSFYF KEIVLQTRTF FEDEQDDVRL
TAIFLFEDLA PLTGRRWKIF FAEEIKKSLI SFLLHLWDPN PKIGVACRDV LMVCIPFLGL
QELYGVLDRL LDQDLPRARD FYRQFCVKLA KKNQEILWIL HTHSFTFFTS TWEVIRSAAV
KLTDAVVLNL TSQYVELLDR EQLTTRLQAL RQDPCISVQR AAEAALQTLL RRCKETSIPL
*
speed 0.79 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