Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999806421396 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:88862529G>AN/A show variant in all transcripts   IGV
HGNC symbol SPATA7
Ensembl transcript ID ENST00000393545
Genbank transcript ID NM_018418
UniProt peptide Q9P0W8
alteration type single base exchange
alteration region CDS
DNA changes c.220G>A
cDNA.509G>A
g.11262G>A
AA changes V74M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 74
frameshift no
known variant Reference ID: rs3179969
databasehomozygous (A/A)heterozygousallele carriers
1000G45511311586
ExAC75911758525176
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5590.908
0.3410.812
(flanking)1.5360.75
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased11255wt: 0.6830 / mu: 0.6947 (marginal change - not scored)wt: GTTCCAGTAAGCGTG
mu: GTTCCAGTAAGCATG		 TCCA|gtaa
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      74KAAVDCSVPVSVSTSIKYADQQRR
mutated  all conserved    74KAAVDCSVPVSMSTSIKYADQQR
Ptroglodytes  all conserved  ENSPTRG00000006606  46--AVDCSVPVSMSTSIKYADQQR
Mmulatta  all conserved  ENSMMUG00000021011  74KAAVDCSVPVSMSTSVKYADQQR
Fcatus  not conserved  ENSFCAG00000002954  67XXXXXXXXXXXXXADQQR
Mmusculus  all identical  ENSMUSG00000021007  74KAAVDCSIPVSVNTSIKYADQQR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000075898  55KAAVDCSVPKSMHASVKYVDQKR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1800 / 1800
position (AA) of stopcodon in wt / mu AA sequence 600 / 600
position of stopcodon in wt / mu cDNA 2089 / 2089
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 290 / 290
chromosome 14
strand 1
last intron/exon boundary 1505
theoretical NMD boundary in CDS 1165
length of CDS 1800
coding sequence (CDS) position 220
cDNA position
(for ins/del: last normal base / first normal base)		 509
gDNA position
(for ins/del: last normal base / first normal base)		 11262
chromosomal position
(for ins/del: last normal base / first normal base)		 88862529
original gDNA sequence snippet ACTGCTCGGTTCCAGTAAGCGTGAGTACCAGCATAAAGTGT
altered gDNA sequence snippet ACTGCTCGGTTCCAGTAAGCATGAGTACCAGCATAAAGTGT
original cDNA sequence snippet ACTGCTCGGTTCCAGTAAGCGTGAGTACCAGCATAAAGTAT
altered cDNA sequence snippet ACTGCTCGGTTCCAGTAAGCATGAGTACCAGCATAAAGTAT
wildtype AA sequence MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAFCTDSSSL RLSTLQLVKN HMAVHYNKIL
SAKAAVDCSV PVSVSTSIKY ADQQRREKLK KELAQCEKEF KLTKTAMRAN YKNNSKSLFN
TLQKPSGEPQ IEDDMLKEEM NGFSSFARSL VPSSERLHLS LHKSSKVITN GPEKNSSSSP
SSVDYAASGP RKLSSGALYG RRPRSTFPNS HRFQLVISKA PSGDLLDKHS ELFSNKQLPF
TPRTLKTEAK SFLSQYRYYT PAKRKKDFTD QRIEAETQTE LSFKSELGTA ETKNMTDSEM
NIKQASNCVT YDAKEKIAPL PLEGHDSTWD EIKDDALQHS SPRAMCQYSL KPPSTRKIYS
DEEELLYLSF IEDVTDEILK LGLFSNRFLE RLFERHIKQN KHLEEEKMRH LLHVLKVDLG
CTSEENSVKQ NDVDMLNVFD FEKAGNSEPN ELKNESEVTI QQERQQYQKA LDMLLSAPKD
ENEIFPSPTE FFMPIYKSKH SEGVIIQQVN DETNLETSTL DENHPSISDS LTDRETSVNV
IEGDSDPEKV EISNGLCGLN TSPSQSVQFS SVKGDNNHDM ELSTLKIMEM SIEDCPLDV*
mutated AA sequence MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAFCTDSSSL RLSTLQLVKN HMAVHYNKIL
SAKAAVDCSV PVSMSTSIKY ADQQRREKLK KELAQCEKEF KLTKTAMRAN YKNNSKSLFN
TLQKPSGEPQ IEDDMLKEEM NGFSSFARSL VPSSERLHLS LHKSSKVITN GPEKNSSSSP
SSVDYAASGP RKLSSGALYG RRPRSTFPNS HRFQLVISKA PSGDLLDKHS ELFSNKQLPF
TPRTLKTEAK SFLSQYRYYT PAKRKKDFTD QRIEAETQTE LSFKSELGTA ETKNMTDSEM
NIKQASNCVT YDAKEKIAPL PLEGHDSTWD EIKDDALQHS SPRAMCQYSL KPPSTRKIYS
DEEELLYLSF IEDVTDEILK LGLFSNRFLE RLFERHIKQN KHLEEEKMRH LLHVLKVDLG
CTSEENSVKQ NDVDMLNVFD FEKAGNSEPN ELKNESEVTI QQERQQYQKA LDMLLSAPKD
ENEIFPSPTE FFMPIYKSKH SEGVIIQQVN DETNLETSTL DENHPSISDS LTDRETSVNV
IEGDSDPEKV EISNGLCGLN TSPSQSVQFS SVKGDNNHDM ELSTLKIMEM SIEDCPLDV*
speed 0.58 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