Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999491898 (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) chr6:41903782A>CN/A show variant in all transcripts   IGV
HGNC symbol CCND3
Ensembl transcript ID ENST00000510503
Genbank transcript ID N/A
UniProt peptide P30281
alteration type single base exchange
alteration region CDS
DNA changes c.395T>G
cDNA.648T>G
g.114314T>G
AA changes L132R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 132
frameshift no
known variant Reference ID: rs1051130
databasehomozygous (C/C)heterozygousallele carriers
1000G93610952031
ExAC18016-326514751
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8750.144
-0.0330.003
(flanking)-1.7620
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 increased114318wt: 0.9237 / mu: 0.9307 (marginal change - not scored)wt: CTCTCAGACCAGCTC
mu: CGCTCAGACCAGCTC		 CTCA|gacc
Donor gained1143130.50mu: GAAGCCGCTCAGACC AGCC|gctc
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      132RSCTQGEPQGSLSDQLQPSAQSPP
mutated  not conserved    132RSCTQGEPQGSRSDQLQPSAQSP
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000004419  222VDCLRACQEQIEAALRESLREAAQT
Fcatus  no alignment  ENSFCAG00000004865  n/a
Mmusculus  no alignment  ENSMUSG00000034165  n/a
Ggallus  no alignment  ENSGALG00000003485  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0010315  n/a
Celegans  no alignment  Y38F1A.5  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
27152DOMAINCyclin N-terminal.lost
134147HELIXmight get lost (downstream of altered splice site)
148150TURNmight get lost (downstream of altered splice site)
157160HELIXmight get lost (downstream of altered splice site)
161166HELIXmight get lost (downstream of altered splice site)
172174TURNmight get lost (downstream of altered splice site)
175191HELIXmight get lost (downstream of altered splice site)
193195HELIXmight get lost (downstream of altered splice site)
200213HELIXmight get lost (downstream of altered splice site)
222233HELIXmight get lost (downstream of altered splice site)
237252HELIXmight get lost (downstream of altered splice site)
263263MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
279279MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 588 / 588
position (AA) of stopcodon in wt / mu AA sequence 196 / 196
position of stopcodon in wt / mu cDNA 841 / 841
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 254 / 254
chromosome 6
strand -1
last intron/exon boundary 585
theoretical NMD boundary in CDS 281
length of CDS 588
coding sequence (CDS) position 395
cDNA position
(for ins/del: last normal base / first normal base)		 648
gDNA position
(for ins/del: last normal base / first normal base)		 114314
chromosomal position
(for ins/del: last normal base / first normal base)		 41903782
original gDNA sequence snippet GGGAGAGCCTCAGGGAAGCCTCTCAGACCAGCTCCAGCCCA
altered gDNA sequence snippet GGGAGAGCCTCAGGGAAGCCGCTCAGACCAGCTCCAGCCCA
original cDNA sequence snippet GGGAGAGCCTCAGGGAAGCCTCTCAGACCAGCTCCAGCCCA
altered cDNA sequence snippet GGGAGAGCCTCAGGGAAGCCGCTCAGACCAGCTCCAGCCCA
wildtype AA sequence MNYLDRYLSC VPTRKAQLQL LGAVCMLLAS KLRETTPLTI EKLCIYTDHA VSPRQLRDWE
VLVLGKLKWD LAAVIAHDFL AFILHRLSLP RDRQALVKKH AQTFLALCAT GLPAGLSGAD
RSCTQGEPQG SLSDQLQPSA QSPPGLQQPR AQPDQHSYRC HSHTPVALER PSGVATKQRR
GRCHPPPCLQ EPHHI*
mutated AA sequence MNYLDRYLSC VPTRKAQLQL LGAVCMLLAS KLRETTPLTI EKLCIYTDHA VSPRQLRDWE
VLVLGKLKWD LAAVIAHDFL AFILHRLSLP RDRQALVKKH AQTFLALCAT GLPAGLSGAD
RSCTQGEPQG SRSDQLQPSA QSPPGLQQPR AQPDQHSYRC HSHTPVALER PSGVATKQRR
GRCHPPPCLQ EPHHI*
speed 1.51 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