Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999152001 (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) chr1:152692472A>CN/A show variant in all transcripts   IGV
HGNC symbol C1orf68
Ensembl transcript ID ENST00000362017
Genbank transcript ID NM_001024679
UniProt peptide Q5T750
alteration type single base exchange
alteration region CDS
DNA changes c.475A>C
cDNA.526A>C
g.1391A>C
AA changes T159P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 159
frameshift no
known variant Reference ID: rs873775
databasehomozygous (C/C)heterozygousallele carriers
1000G33810731411
ExAC114743855532
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.280.007
1.9010.327
(flanking)3.2460.342
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1398wt: 0.21 / mu: 0.70wt: CCAGTACTGTGTCACTGACCCATGCTCTGCTCCCTGTTCCA
mu: CCAGTACTGTGTCCCTGACCCATGCTCTGCTCCCTGTTCCA		 accc|ATGC
Donor marginally increased1395wt: 0.9072 / mu: 0.9222 (marginal change - not scored)wt: CACTGACCCATGCTC
mu: CCCTGACCCATGCTC		 CTGA|ccca
distance from splice site 475
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      159PASGSTSQYCVTDPCSAPCSTSYC
mutated  not conserved    159PASGSTSQYCVPDPCSAPCSTSY
Ptroglodytes  not conserved  ENSPTRG00000023085  159PASGSTSQYCVPDPCSAPYSTSY
Mmulatta  not conserved  ENSMMUG00000001966  162PASGSTSQYCAPDPCSAPCSTSY
Fcatus  not conserved  ENSFCAG00000013917  159PTSGLAMSCCTPDPSSAPSSTSY
Mmusculus  not conserved  ENSMUSG00000090314  183GCVPDPCSAPCSTSY
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000089414  n/a
Dmelanogaster  no homologue    
Celegans  no alignment  T26C11.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
33250COMPBIASCys-rich.lost
235235CONFLICTR -> K (in Ref. 3; AAB83961).might get lost (downstream of altered splice site)
238238CONFLICTG -> S (in Ref. 3; AAB83961).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 753 / 753
position (AA) of stopcodon in wt / mu AA sequence 251 / 251
position of stopcodon in wt / mu cDNA 804 / 804
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 52 / 52
chromosome 1
strand 1
last intron/exon boundary 31
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 753
coding sequence (CDS) position 475
cDNA position
(for ins/del: last normal base / first normal base)		 526
gDNA position
(for ins/del: last normal base / first normal base)		 1391
chromosomal position
(for ins/del: last normal base / first normal base)		 152692472
original gDNA sequence snippet CAACCTCCCAGTACTGTGTCACTGACCCATGCTCTGCTCCC
altered gDNA sequence snippet CAACCTCCCAGTACTGTGTCCCTGACCCATGCTCTGCTCCC
original cDNA sequence snippet CAACCTCCCAGTACTGTGTCACTGACCCATGCTCTGCTCCC
altered cDNA sequence snippet CAACCTCCCAGTACTGTGTCCCTGACCCATGCTCTGCTCCC
wildtype AA sequence MCDQQKQPQF PPSCVKGSGL GAGQGSNGAS VKCPVPCQTQ TVCVTGPAPC PTQTYVKYQV
PCQTQTYVKC PAPCQRTYVK YPTPCQTYVK CPAPCQTTYV KCPTPCQTYV KCPAPCQMTY
IKSPAPCQTQ TCYVQGASPC QSYYVQAPAS GSTSQYCVTD PCSAPCSTSY CCLAPRTFGV
SPLRRWIQRP QNCNTGSSGC CENSGSSGCC GSGGCGCSCG CGSSGCCCLG IIPMRSRGPA
CCDHEDDCCC *
mutated AA sequence MCDQQKQPQF PPSCVKGSGL GAGQGSNGAS VKCPVPCQTQ TVCVTGPAPC PTQTYVKYQV
PCQTQTYVKC PAPCQRTYVK YPTPCQTYVK CPAPCQTTYV KCPTPCQTYV KCPAPCQMTY
IKSPAPCQTQ TCYVQGASPC QSYYVQAPAS GSTSQYCVPD PCSAPCSTSY CCLAPRTFGV
SPLRRWIQRP QNCNTGSSGC CENSGSSGCC GSGGCGCSCG CGSSGCCCLG IIPMRSRGPA
CCDHEDDCCC *
speed 1.07 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