Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999990979714487 (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) chr4:103611845C>TN/A show variant in all transcripts   IGV
HGNC symbol MANBA
Ensembl transcript ID ENST00000226578
Genbank transcript ID NM_005908
UniProt peptide O00462
alteration type single base exchange
alteration region CDS
DNA changes c.757G>A
cDNA.857G>A
g.70307G>A
AA changes V253I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 253
frameshift no
known variant Reference ID: rs227368
databasehomozygous (T/T)heterozygousallele carriers
1000G41510561471
ExAC12586759520181
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.9580.284
0.480.116
(flanking)-3.0240
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased70300wt: 0.65 / mu: 0.73wt: GGTCAAGTGATCGTA
mu: GGTCAAGTGATCATA		 TCAA|gtga
Donor increased70304wt: 0.23 / mu: 0.28wt: AAGTGATCGTAGCCA
mu: AAGTGATCATAGCCA		 GTGA|tcgt
Donor increased70309wt: 0.38 / mu: 0.56wt: ATCGTAGCCATCCCT
mu: ATCATAGCCATCCCT		 CGTA|gcca
distance from splice site 84
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      253VSSKPVGGQVIVAIPKLQTQQTYS
mutated  all conserved    253VSSKPVGGQVIIAIPKLQTQQTY
Ptroglodytes  all identical  ENSPTRG00000016322  253VSSKPVGGQVIVAIPKLQTQQTY
Mmulatta  all identical  ENSMMUG00000003739  195VSSKPVGGQVIVAIPKLQTQQMY
Fcatus  not conserved  ENSFCAG00000007558  194VSPKPXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000028164  253ASSKSVSGQVTVAIPQLKTQQTN
Ggallus  all identical  ENSGALG00000012308  194VGSKPIAGLATVNIPKLQTQQTY
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000079520  274VVASK--GLVHISIP
Dmelanogaster  no homologue    
Celegans  all identical  C33G3.4  259FHYGARTIEYSVQIPELG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
280280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
284284CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
297297CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302302CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
457457ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
763763CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2640 / 2640
position (AA) of stopcodon in wt / mu AA sequence 880 / 880
position of stopcodon in wt / mu cDNA 2740 / 2740
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 101 / 101
chromosome 4
strand -1
last intron/exon boundary 2516
theoretical NMD boundary in CDS 2365
length of CDS 2640
coding sequence (CDS) position 757
cDNA position
(for ins/del: last normal base / first normal base)		 857
gDNA position
(for ins/del: last normal base / first normal base)		 70307
chromosomal position
(for ins/del: last normal base / first normal base)		 103611845
original gDNA sequence snippet CAGTTGGTGGTCAAGTGATCGTAGCCATCCCTAAGTTGCAA
altered gDNA sequence snippet CAGTTGGTGGTCAAGTGATCATAGCCATCCCTAAGTTGCAA
original cDNA sequence snippet CAGTTGGTGGTCAAGTGATCGTAGCCATCCCTAAGTTGCAA
altered cDNA sequence snippet CAGTTGGTGGTCAAGTGATCATAGCCATCCCTAAGTTGCAA
wildtype AA sequence MRLHLLLLLA LCGAGTTAAE LSYSLRGNWS ICNGNGSLEL PGAVPGCVHS ALFQQGLIQD
SYYRFNDLNY RWVSLDNWTY SKEFKIPFEI SKWQKVNLIL EGVDTVSKIL FNEVTIGETD
NMFNRYSFDI TNVVRDVNSI ELRFQSAVLY AAQQSKAHTR YQVPPDCPPL VQKGECHVNF
VRKEQCSFSW DWGPSFPTQG IWKDVRIEAY NICHLNYFTF SPIYDKSAQE WNLEIESTFD
VVSSKPVGGQ VIVAIPKLQT QQTYSIELQP GKRIVELFVN ISKNITVETW WPHGHGNQTG
YNMTVLFELD GGLNIEKSAK VYFRTVELIE EPIKGSPGLS FYFKINGFPI FLKGSNWIPA
DSFQDRVTSE LLRLLLQSVV DANMNTLRVW GGGIYEQDEF YELCDELGIM VWQDFMFACA
LYPTDQGFLD SVTAEVAYQI KRLKSHPSII IWSGNNENEE ALMMNWYHIS FTDRPIYIKD
YVTLYVKNIR ELVLAGDKSR PFITSSPTNG AETVAEAWVS QNPNSNYFGD VHFYDYISDC
WNWKVFPKAR FASEYGYQSW PSFSTLEKVS STEDWSFNSK FSLHRQHHEG GNKQMLYQAG
LHFKLPQSTD PLRTFKDTIY LTQVMQAQCV KTETEFYRRS RSEIVDQQGH TMGALYWQLN
DIWQAPSWAS LEYGGKWKML HYFAQNFFAP LLPVGFENEN TFYIYGVSDL HSDYSMTLSV
RVHTWSSLEP VCSRVTERFV MKGGEAVCLY EEPVSELLRR CGNCTRESCV VSFYLSADHE
LLSPTNYHFL SSPKEAVGLC KAQITAIISQ QGDIFVFDLE TSAVAPFVWL DVGSIPGRFS
DNGFLMTEKT RTILFYPWEP TSKNELEQSF HVTSLTDIY*
mutated AA sequence MRLHLLLLLA LCGAGTTAAE LSYSLRGNWS ICNGNGSLEL PGAVPGCVHS ALFQQGLIQD
SYYRFNDLNY RWVSLDNWTY SKEFKIPFEI SKWQKVNLIL EGVDTVSKIL FNEVTIGETD
NMFNRYSFDI TNVVRDVNSI ELRFQSAVLY AAQQSKAHTR YQVPPDCPPL VQKGECHVNF
VRKEQCSFSW DWGPSFPTQG IWKDVRIEAY NICHLNYFTF SPIYDKSAQE WNLEIESTFD
VVSSKPVGGQ VIIAIPKLQT QQTYSIELQP GKRIVELFVN ISKNITVETW WPHGHGNQTG
YNMTVLFELD GGLNIEKSAK VYFRTVELIE EPIKGSPGLS FYFKINGFPI FLKGSNWIPA
DSFQDRVTSE LLRLLLQSVV DANMNTLRVW GGGIYEQDEF YELCDELGIM VWQDFMFACA
LYPTDQGFLD SVTAEVAYQI KRLKSHPSII IWSGNNENEE ALMMNWYHIS FTDRPIYIKD
YVTLYVKNIR ELVLAGDKSR PFITSSPTNG AETVAEAWVS QNPNSNYFGD VHFYDYISDC
WNWKVFPKAR FASEYGYQSW PSFSTLEKVS STEDWSFNSK FSLHRQHHEG GNKQMLYQAG
LHFKLPQSTD PLRTFKDTIY LTQVMQAQCV KTETEFYRRS RSEIVDQQGH TMGALYWQLN
DIWQAPSWAS LEYGGKWKML HYFAQNFFAP LLPVGFENEN TFYIYGVSDL HSDYSMTLSV
RVHTWSSLEP VCSRVTERFV MKGGEAVCLY EEPVSELLRR CGNCTRESCV VSFYLSADHE
LLSPTNYHFL SSPKEAVGLC KAQITAIISQ QGDIFVFDLE TSAVAPFVWL DVGSIPGRFS
DNGFLMTEKT RTILFYPWEP TSKNELEQSF HVTSLTDIY*
speed 1.05 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