Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999977972 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:51919949G>AN/A show variant in all transcripts   IGV
HGNC symbol SIGLEC10
Ensembl transcript ID ENST00000525998
Genbank transcript ID N/A
UniProt peptide Q96LC7
alteration type single base exchange
alteration region CDS
DNA changes c.677C>T
cDNA.738C>T
g.1109C>T
AA changes A226V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
frameshift no
known variant Reference ID: rs9304711
databasehomozygous (A/A)heterozygousallele carriers
1000G2528531105
ExAC49502228927239
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2960
1.4850.002
(flanking)-0.2560
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 increased1109wt: 0.3728 / mu: 0.3755 (marginal change - not scored)wt: GAGCGCACAGAGGAC
mu: GAGCGTACAGAGGAC		 GCGC|acag
Donor marginally increased1114wt: 0.9084 / mu: 0.9130 (marginal change - not scored)wt: CACAGAGGACCGTCC
mu: TACAGAGGACCGTCC		 CAGA|ggac
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      226CHVDFSRKGVSAQRTVRLRVAYAP
mutated  not conserved    226CHVDFSRKGVSVQRTVRLRVAYA
Ptroglodytes  all identical  ENSPTRG00000011383  226CHVDFSRKGVSAQRTVRLRVAYA
Mmulatta  all identical  ENSMMUG00000021111  228CHVDFSRKGVSAQRTVRLRVAYA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030468  225CQLDFSR--MSTQRTVRLRVAYA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089404  232CDVRYGNKKINTNNTLEVKYVQA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17550TOPO_DOMExtracellular (Potential).lost
146231DOMAINIg-like C2-type 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1539 / 1539
position (AA) of stopcodon in wt / mu AA sequence 513 / 513
position of stopcodon in wt / mu cDNA 1600 / 1600
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 62 / 62
chromosome 19
strand -1
last intron/exon boundary 1328
theoretical NMD boundary in CDS 1216
length of CDS 1539
coding sequence (CDS) position 677
cDNA position
(for ins/del: last normal base / first normal base)		 738
gDNA position
(for ins/del: last normal base / first normal base)		 1109
chromosomal position
(for ins/del: last normal base / first normal base)		 51919949
original gDNA sequence snippet CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC
altered gDNA sequence snippet CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC
original cDNA sequence snippet CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC
altered cDNA sequence snippet CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC
wildtype AA sequence MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSAQRTV RLRVAYAPRD
LVISISRDNT PDPPENLRVM VSQANRTVLE NLGNGTSLPV LEGQSLCLVC VTHSSPPARL
SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE GEFTCHARHP LGSQHVSLSL SVHYKKGLIS
TAFSNGAFLG IGITALLFLC LALIIMKILP KRRTQTETPR PRFSRHSTIL DYINVVPTAG
PLAQKRNQKA TPNSPRTPLP PGAPSPESKK NQKKQYQLPS FPEPKSSTQA PESQESQEEL
HYATLNFPGV RPRPEARMPK GTQADYAEVK FQ*
mutated AA sequence MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKPDVYI PETLEPGQPV TVICVFNWAF EECPPPSFSW
TGAALSSQGT KPTTSHFSVL SFTPRPQDHN TDLTCHVDFS RKGVSVQRTV RLRVAYAPRD
LVISISRDNT PDPPENLRVM VSQANRTVLE NLGNGTSLPV LEGQSLCLVC VTHSSPPARL
SWTQRGQVLS PSQPSDPGVL ELPRVQVEHE GEFTCHARHP LGSQHVSLSL SVHYKKGLIS
TAFSNGAFLG IGITALLFLC LALIIMKILP KRRTQTETPR PRFSRHSTIL DYINVVPTAG
PLAQKRNQKA TPNSPRTPLP PGAPSPESKK NQKKQYQLPS FPEPKSSTQA PESQESQEEL
HYATLNFPGV RPRPEARMPK GTQADYAEVK FQ*
speed 1.09 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