Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00277006357904059 (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) chr16:69988472C>TN/A show variant in all transcripts   IGV
HGNC symbol CLEC18A
Ensembl transcript ID ENST00000288040
Genbank transcript ID NM_001136214
UniProt peptide A5D8T8
alteration type single base exchange
alteration region CDS
DNA changes c.452C>T
cDNA.639C>T
g.3663C>T
AA changes T151M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs75776403
databasehomozygous (T/T)heterozygousallele carriers
1000G28610201306
ExAC32572069823955
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1191
2.5430.998
(flanking)-1.0450.965
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost3666sequence motif lost- wt: GCAG|gtga
 mu: GCAG.gtga
Acc marginally increased3663wt: 0.8405 / mu: 0.8525 (marginal change - not scored)wt: CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG
mu: CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG		 acac|GCAG
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151ECARNATCTHYTQLVWATSSQLGC
mutated  not conserved    151ECARNATCTHYMQLVWATSSQLG
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000009424  151ECARNATCTHYTQLVWATSSQLG
Fcatus  all identical  ENSFCAG00000009480  152ECAPNATCTHYTQLVW-TSSQLG
Mmusculus  all identical  ENSMUSG00000033633  239AHYTQLVWATSSQLG
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018145  105KCKEGATCQHYTQLVWATSSQVG
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0038126  149-HYSQLVWGETSLVG
Celegans  not conserved  F48E8.1  176HC-----CGHYVQVVWAKTNLVG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
52182DOMAINSCP.lost
151151CONFLICTT -> M (in Ref. 2; BAF82573 and 4; AAI41809).lost
228261DOMAINEGF-like.might get lost (downstream of altered splice site)
236236DISULFIDBy similarity.might get lost (downstream of altered splice site)
249249DISULFIDBy similarity.might get lost (downstream of altered splice site)
251251DISULFIDBy similarity.might get lost (downstream of altered splice site)
260260DISULFIDBy similarity.might get lost (downstream of altered splice site)
273273CONFLICTF -> L (in Ref. 4; AAH78143).might get lost (downstream of altered splice site)
306433DOMAINC-type lectin.might get lost (downstream of altered splice site)
327327DISULFIDBy similarity.might get lost (downstream of altered splice site)
339339CONFLICTS -> R (in Ref. 4; AAI41809).might get lost (downstream of altered splice site)
401402CONFLICTDN -> AT (in Ref. 4; AAH08616).might get lost (downstream of altered splice site)
408408DISULFIDBy similarity.might get lost (downstream of altered splice site)
421421CONFLICTD -> N (in Ref. 4; AAH78143).might get lost (downstream of altered splice site)
424424DISULFIDBy similarity.might get lost (downstream of altered splice site)
432432DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1341 / 1341
position (AA) of stopcodon in wt / mu AA sequence 447 / 447
position of stopcodon in wt / mu cDNA 1528 / 1528
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 188 / 188
chromosome 16
strand 1
last intron/exon boundary 1491
theoretical NMD boundary in CDS 1253
length of CDS 1341
coding sequence (CDS) position 452
cDNA position
(for ins/del: last normal base / first normal base)		 639
gDNA position
(for ins/del: last normal base / first normal base)		 3663
chromosomal position
(for ins/del: last normal base / first normal base)		 69988472
original gDNA sequence snippet CGCCACCTGCACCCACTACACGCAGGTGAGTGTGCTGCAGG
altered gDNA sequence snippet CGCCACCTGCACCCACTACATGCAGGTGAGTGTGCTGCAGG
original cDNA sequence snippet CGCCACCTGCACCCACTACACGCAGCTCGTGTGGGCCACCT
altered cDNA sequence snippet CGCCACCTGCACCCACTACATGCAGCTCGTGTGGGCCACCT
wildtype AA sequence MLHPETSPGR GHLLAVLLAL LGTAWAEVWP PQLQEQAPMA GALNRKESFL LLSLHNRLRS
WVQPPAADMR RLDWSDSLAQ LAQARAALCG TPTPSLASGL WRTLQVGWNM QLLPAGLVSF
VEVVSLWFAE GQRYSHAAGE CARNATCTHY TQLVWATSSQ LGCGRHLCSA GQAAIEAFVC
AYSPRGNWEV NGKTIVPYKK GAWCSLCTAS VSGCFKAWDH AGGLCEVPRN PCRMSCQNHG
RLNISTCHCH CPPGYTGRYC QVRCSLQCVH GRFREEECSC VCDIGYGGAQ CATKVHFPFH
TCDLRIDGDC FMVSSEADTY YRARMKCQRK GGVLAQIKSQ KVQDILAFYL GRLETTNEVI
DSDFETRNFW IGLTYKTAKD SFRWATGEHQ AFTSFAFGQP DNHGFGNCVE LQASAAFNWN
DQRCKTRNRY ICQFAQEHIS RWGPGS*
mutated AA sequence MLHPETSPGR GHLLAVLLAL LGTAWAEVWP PQLQEQAPMA GALNRKESFL LLSLHNRLRS
WVQPPAADMR RLDWSDSLAQ LAQARAALCG TPTPSLASGL WRTLQVGWNM QLLPAGLVSF
VEVVSLWFAE GQRYSHAAGE CARNATCTHY MQLVWATSSQ LGCGRHLCSA GQAAIEAFVC
AYSPRGNWEV NGKTIVPYKK GAWCSLCTAS VSGCFKAWDH AGGLCEVPRN PCRMSCQNHG
RLNISTCHCH CPPGYTGRYC QVRCSLQCVH GRFREEECSC VCDIGYGGAQ CATKVHFPFH
TCDLRIDGDC FMVSSEADTY YRARMKCQRK GGVLAQIKSQ KVQDILAFYL GRLETTNEVI
DSDFETRNFW IGLTYKTAKD SFRWATGEHQ AFTSFAFGQP DNHGFGNCVE LQASAAFNWN
DQRCKTRNRY ICQFAQEHIS RWGPGS*
speed 0.96 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