Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999997 (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) chr3:191097966T>CN/A show variant in all transcripts   IGV
HGNC symbol CCDC50
Ensembl transcript ID ENST00000392455
Genbank transcript ID NM_174908
UniProt peptide Q8IVM0
alteration type single base exchange
alteration region CDS
DNA changes c.467T>C
cDNA.1065T>C
g.51101T>C
AA changes M156T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 156
frameshift no
known variant Reference ID: rs293813
databasehomozygous (C/C)heterozygousallele carriers
1000G109910302129
ExAC17770-277314997
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0780
-0.040.002
(flanking)-0.1710.027
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased51105wt: 0.21 / mu: 0.26wt: ATGAAAGAAGCTGTA
mu: ACGAAAGAAGCTGTA		 GAAA|gaag
Donor marginally increased51096wt: 0.9966 / mu: 0.9975 (marginal change - not scored)wt: CCAAGAGTGATGAAA
mu: CCAAGAGTGACGAAA		 AAGA|gtga
Donor marginally increased51100wt: 0.9502 / mu: 0.9801 (marginal change - not scored)wt: GAGTGATGAAAGAAG
mu: GAGTGACGAAAGAAG		 GTGA|tgaa
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      156YYEDGGMKPRVMKEAVSTPSRMAH
mutated  not conserved    156YYEDGGMKPRVTKEAVSTPSRMA
Ptroglodytes  not conserved  ENSPTRG00000015745  332HLHDTGMKPRVTKEAVSTPSRMA
Mmulatta  not conserved  ENSMMUG00000015330  332HLHDPGIKPRVTKETVPAPSRTT
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038127  156YHEDGGMKPRGIKEAVSTPARAS
Ggallus  not conserved  ENSGALG00000020813  157YRCKTRTKLRGTKQTVYDKPR--
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000002145  157-DKEGHRKGR-HKEYLSEYDR-P
protein features
start (aa)end (aa)featuredetails 
214250COMPBIASLys-rich.might get lost (downstream of altered splice site)
266269COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
279279MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 921 / 921
position (AA) of stopcodon in wt / mu AA sequence 307 / 307
position of stopcodon in wt / mu cDNA 1519 / 1519
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 599 / 599
chromosome 3
strand 1
last intron/exon boundary 1500
theoretical NMD boundary in CDS 851
length of CDS 921
coding sequence (CDS) position 467
cDNA position
(for ins/del: last normal base / first normal base)		 1065
gDNA position
(for ins/del: last normal base / first normal base)		 51101
chromosomal position
(for ins/del: last normal base / first normal base)		 191097966
original gDNA sequence snippet AGGAATGAAGCCAAGAGTGATGAAAGAAGCTGTATCTACTC
altered gDNA sequence snippet AGGAATGAAGCCAAGAGTGACGAAAGAAGCTGTATCTACTC
original cDNA sequence snippet AGGAATGAAGCCAAGAGTGATGAAAGAAGCTGTATCTACTC
altered cDNA sequence snippet AGGAATGAAGCCAAGAGTGACGAAAGAAGCTGTATCTACTC
wildtype AA sequence MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR LVQHDLQVAK
QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE RRRIQEKKDE DIARLLQEKE
LQEEKKRKKH FPEFPATRAY ADSYYYEDGG MKPRVMKEAV STPSRMAHRD QEWYDAEIAR
KLQEEELLAT QVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK
TAKAANSKSK ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK
GFHYKH*
mutated AA sequence MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR LVQHDLQVAK
QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE RRRIQEKKDE DIARLLQEKE
LQEEKKRKKH FPEFPATRAY ADSYYYEDGG MKPRVTKEAV STPSRMAHRD QEWYDAEIAR
KLQEEELLAT QVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK
TAKAANSKSK ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK
GFHYKH*
speed 0.99 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