Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999985433 (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 ENST00000372988
Genbank transcript ID NM_001136017
UniProt peptide P30281
alteration type single base exchange
alteration region CDS
DNA changes c.532T>G
cDNA.1045T>G
g.114314T>G
AA changes S178A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 178
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      178EAALRESLREASQTSSSPAPKAPR
mutated  all conserved    178EAALRESLREAAQT
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000004419  259EAALRESLREAAQT
Fcatus  all conserved  ENSFCAG00000004865  202AQTSPSPAPKAP
Mmusculus  all conserved  ENSMUSG00000034165  259EAALRESLREAAQT
Ggallus  all identical  ENSGALG00000003485  259EAALAESLKQAS
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0010315  81YASVDSAAKNPEQLEPPPPPPPP
Celegans  all identical  Y38F1A.5  303QRCMSTTPIYTSED
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
175191HELIXlost
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 636 / 636
position (AA) of stopcodon in wt / mu AA sequence 212 / 212
position of stopcodon in wt / mu cDNA 1149 / 1149
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 514 / 514
chromosome 6
strand -1
last intron/exon boundary 982
theoretical NMD boundary in CDS 418
length of CDS 636
coding sequence (CDS) position 532
cDNA position
(for ins/del: last normal base / first normal base)		 1045
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 DYTFAMYPPS
MIATGSIGAA VQGLGACSMS GDELTELLAG ITGTEVDCLR ACQEQIEAAL RESLREASQT
SSSPAPKAPR GSSSQGPSQT STPTDVTAIH L*
mutated AA sequence MNYLDRYLSC VPTRKAQLQL LGAVCMLLAS KLRETTPLTI EKLCIYTDHA VSPRQLRDWE
VLVLGKLKWD LAAVIAHDFL AFILHRLSLP RDRQALVKKH AQTFLALCAT DYTFAMYPPS
MIATGSIGAA VQGLGACSMS GDELTELLAG ITGTEVDCLR ACQEQIEAAL RESLREAAQT
SSSPAPKAPR GSSSQGPSQT STPTDVTAIH L*
speed 1.09 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