Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999884301 (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) chr10:128974220G>AN/A show variant in all transcripts   IGV
HGNC symbol INSYN2A
Ensembl transcript ID ENST00000424811
Genbank transcript ID N/A
UniProt peptide Q6ZSG2
alteration type single base exchange
alteration region CDS
DNA changes c.440C>T
cDNA.578C>T
g.20203C>T
AA changes A147V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 147
frameshift no
known variant Reference ID: rs11594560
databasehomozygous (A/A)heterozygousallele carriers
1000G121588709
ExAC39562106525021
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.50
1.6720.003
(flanking)-0.2990
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 increased20196wt: 0.9027 / mu: 0.9515 (marginal change - not scored)wt: TTCTAACAGATGCGA
mu: TTCTAACAGATGTGA		 CTAA|caga
distance from splice site 445
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      147FKSQNNGFLTDAKEKNEAGPMEEA
mutated  not conserved    147FKSQNNGFLTDVKEKNEAGPMEE
Ptroglodytes  all identical  ENSPTRG00000003050  147FKSQNNGFLTDAKEKNEAGPMEE
Mmulatta  all identical  ENSMMUG00000018550  147FKSQNNGFLTDAKEKNEAGLMEA
Fcatus  no alignment  ENSFCAG00000007355  n/a
Mmusculus  all conserved  ENSMUSG00000073805  147FKSQNNGFLADSKEKSEAGPMEE
Ggallus  not conserved  ENSGALG00000013934  147FKSENNGFLIDIKEKDSRSSEDG
Trubripes  not conserved  ENSTRUG00000008477  147YKGQKNGFVMEVKPSKAAEQSLDEEE
Drerio  not conserved  ENSDARG00000079559  138CKDQDDGFVIDVKR---AKATEA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000005213  146LKNQNNGFIIDAKDKNSGDTIQ-
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1368 / 1368
position (AA) of stopcodon in wt / mu AA sequence 456 / 456
position of stopcodon in wt / mu cDNA 1506 / 1506
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 139 / 139
chromosome 10
strand -1
last intron/exon boundary 1323
theoretical NMD boundary in CDS 1134
length of CDS 1368
coding sequence (CDS) position 440
cDNA position
(for ins/del: last normal base / first normal base)		 578
gDNA position
(for ins/del: last normal base / first normal base)		 20203
chromosomal position
(for ins/del: last normal base / first normal base)		 128974220
original gDNA sequence snippet CAATGGGTTTCTAACAGATGCGAAAGAGAAGAACGAGGCTG
altered gDNA sequence snippet CAATGGGTTTCTAACAGATGTGAAAGAGAAGAACGAGGCTG
original cDNA sequence snippet CAATGGGTTTCTAACAGATGCGAAAGAGAAGAACGAGGCTG
altered cDNA sequence snippet CAATGGGTTTCTAACAGATGTGAAAGAGAAGAACGAGGCTG
wildtype AA sequence MVSKDTGKCI LTTSESEVEP AACLALEMKY ALDPNRQIKK RNKALQVRFK DICEAQNEQR
DTQLSSGQLG EKREAKPVSC RAAYRKYMTV PARRSIPNVT KSTGVQTSPD LKKCYQTFPL
DRKKGNLKSL PAADPFKSQN NGFLTDAKEK NEAGPMEEAR PCGAGRVHKT TALVFHSNQH
MNTVDQPLGV NCTEPCKSPE PLSYGEAALQ NSTRPPSEEP DYQLLGRAKQ DRGRPNSEEP
APPALRRVFK TEVATVYAPA LSARAPEPGL SDSAAASQWS LCPADDERRR ATHLNGLQAP
SETALACSPP MQCLSPECSE QPSQTHTPPG LGNQPSPTAV AAGEECQRIV PHTEVVDLKA
QLQMMENLIS SSQETIKVLL GVIQELEKGE AHREGVELDF KQQEDKLQPV LRKLHPIEET
QVIPSPYSQE TYSSTPKQKS KTESKKHGRW KLWFL*
mutated AA sequence MVSKDTGKCI LTTSESEVEP AACLALEMKY ALDPNRQIKK RNKALQVRFK DICEAQNEQR
DTQLSSGQLG EKREAKPVSC RAAYRKYMTV PARRSIPNVT KSTGVQTSPD LKKCYQTFPL
DRKKGNLKSL PAADPFKSQN NGFLTDVKEK NEAGPMEEAR PCGAGRVHKT TALVFHSNQH
MNTVDQPLGV NCTEPCKSPE PLSYGEAALQ NSTRPPSEEP DYQLLGRAKQ DRGRPNSEEP
APPALRRVFK TEVATVYAPA LSARAPEPGL SDSAAASQWS LCPADDERRR ATHLNGLQAP
SETALACSPP MQCLSPECSE QPSQTHTPPG LGNQPSPTAV AAGEECQRIV PHTEVVDLKA
QLQMMENLIS SSQETIKVLL GVIQELEKGE AHREGVELDF KQQEDKLQPV LRKLHPIEET
QVIPSPYSQE TYSSTPKQKS KTESKKHGRW KLWFL*
speed 1.37 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