Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.997013135599352 (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) chr18:66513615A>GN/A show variant in all transcripts   IGV
HGNC symbol CCDC102B
Ensembl transcript ID ENST00000360242
Genbank transcript ID NM_024781
UniProt peptide Q68D86
alteration type single base exchange
alteration region CDS
DNA changes c.893A>G
cDNA.1010A>G
g.131170A>G
AA changes K298R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 298
frameshift no
known variant Reference ID: rs2187094
databasehomozygous (G/G)heterozygousallele carriers
1000G4519401391
ExAC98461307522921
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5111
2.1051
(flanking)0.9321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased131162wt: 0.77 / mu: 0.86wt: GAGTCGGCTTTGTCTCTGTGGAAGTGGAAGTATGAAGAACT
mu: GAGTCGGCTTTGTCTCTGTGGAAGTGGAGGTATGAAGAACT		 gtgg|AAGT
Acc marginally increased131160wt: 0.9549 / mu: 0.9600 (marginal change - not scored)wt: TGGAGTCGGCTTTGTCTCTGTGGAAGTGGAAGTATGAAGAA
mu: TGGAGTCGGCTTTGTCTCTGTGGAAGTGGAGGTATGAAGAA		 ctgt|GGAA
Donor gained1311690.94mu: AGTGGAGGTATGAAG TGGA|ggta
Donor gained1311640.99mu: GTGGAAGTGGAGGTA GGAA|gtgg
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298RLESALSLWKWKYEELKESKPKNV
mutated  all conserved    298RLESALSLWKWRYE
Ptroglodytes  all identical  ENSPTRG00000010100  298RLESALSLWKWKYE
Mmulatta  all identical  ENSMMUG00000022902  295RLESALSLWKWKYE
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0051638  280KLTLEIQDVRGRQEEMRSAKQEA
Celegans  no alignment  F53F10.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
268337COILEDPotential.lost
363513COILEDPotential.might get lost (downstream of altered splice site)
382382CONFLICTR -> G (in Ref. 1; CAH18334).might get lost (downstream of altered splice site)
469469CONFLICTK -> R (in Ref. 1; CAH18334).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1542 / 1542
position (AA) of stopcodon in wt / mu AA sequence 514 / 514
position of stopcodon in wt / mu cDNA 1659 / 1659
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 118 / 118
chromosome 18
strand 1
last intron/exon boundary 1552
theoretical NMD boundary in CDS 1384
length of CDS 1542
coding sequence (CDS) position 893
cDNA position
(for ins/del: last normal base / first normal base)		 1010
gDNA position
(for ins/del: last normal base / first normal base)		 131170
chromosomal position
(for ins/del: last normal base / first normal base)		 66513615
original gDNA sequence snippet TTTGTCTCTGTGGAAGTGGAAGTATGAAGAACTGAAAGAAT
altered gDNA sequence snippet TTTGTCTCTGTGGAAGTGGAGGTATGAAGAACTGAAAGAAT
original cDNA sequence snippet TTTGTCTCTGTGGAAGTGGAAGTATGAAGAACTGAAAGAAT
altered cDNA sequence snippet TTTGTCTCTGTGGAAGTGGAGGTATGAAGAACTGAAAGAAT
wildtype AA sequence MNLDSIHRLI EETQIFQMQQ SSIKSRGDMV APASPPRDTC NTCFPLHGLQ SHAAHNFCAH
SYNTNKWDIC EELRLRELEE VKARAAQMEK TMRWWSDCTA NWREKWSKVR AERNSAREEG
RQLRIKLEMA MKELSTLKKK QSLPPQKEAL EAKVTQDLKL PGFVEESCEH TDQFQLSSQM
HESIREYLVK RQFSTKEDTN NKEQGVVIDS LKLSEEMKPN LDGVDLFNNG GSGNGETKTG
LRLKAINLPL ENEVTEISAL QVHLDEFQKI LWKEREMRTA LEKEIERLES ALSLWKWKYE
ELKESKPKNV KEFDILLGQH NDEMQELSGN IKEESKSQNS KDRVICELRA ELERLQAENT
SEWDKREILE REKQGLEREN RRLKIQVKEM EELLDKKNRL SANSQSPDFK MSQIDLQEKN
QELLNLQHAY YKLNRQYQAN IAELTHANNR VDQNEAEVKK LRLRVEELKQ GLNQKEDELD
DSLNQIRKLQ RSLDEEKERN ENLETELRHL QNW*
mutated AA sequence MNLDSIHRLI EETQIFQMQQ SSIKSRGDMV APASPPRDTC NTCFPLHGLQ SHAAHNFCAH
SYNTNKWDIC EELRLRELEE VKARAAQMEK TMRWWSDCTA NWREKWSKVR AERNSAREEG
RQLRIKLEMA MKELSTLKKK QSLPPQKEAL EAKVTQDLKL PGFVEESCEH TDQFQLSSQM
HESIREYLVK RQFSTKEDTN NKEQGVVIDS LKLSEEMKPN LDGVDLFNNG GSGNGETKTG
LRLKAINLPL ENEVTEISAL QVHLDEFQKI LWKEREMRTA LEKEIERLES ALSLWKWRYE
ELKESKPKNV KEFDILLGQH NDEMQELSGN IKEESKSQNS KDRVICELRA ELERLQAENT
SEWDKREILE REKQGLEREN RRLKIQVKEM EELLDKKNRL SANSQSPDFK MSQIDLQEKN
QELLNLQHAY YKLNRQYQAN IAELTHANNR VDQNEAEVKK LRLRVEELKQ GLNQKEDELD
DSLNQIRKLQ RSLDEEKERN ENLETELRHL QNW*
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