Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999986514483 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:464310A>GN/A show variant in all transcripts   IGV
HGNC symbol ODF3L2
Ensembl transcript ID ENST00000382696
Genbank transcript ID N/A
UniProt peptide Q3SX64
alteration type single base exchange
alteration region CDS
DNA changes c.296T>C
cDNA.429T>C
g.10674T>C
AA changes V99A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 99
frameshift no
known variant Reference ID: rs34551779
databasehomozygous (G/G)heterozygousallele carriers
1000G54810921640
ExAC139638005196
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.730.284
-0.1070.01
(flanking)-0.5820
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      99PGAYSPEKVPPVRHRTPPAFTLGC
mutated  not conserved    99PGAYSPEKVPPARHRTPPAFTLG
Ptroglodytes  all identical  ENSPTRG00000010148  18PGAYSPEKVPPVCHRTPPAFTLG
Mmulatta  all identical  ENSMMUG00000032205  59PGAYSPEKVPPVRHR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035963  135PGAYSPEKAPPVRQRNAPAFTLG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000009610  107PGTYSPERAPPCNLQRRP
Drerio  all conserved  ENSDARG00000014209  111PGAYSPEKAPPLNLHHRP
Dmelanogaster  not conserved  FBgn0039104  98PGAHDVHNRPFFKGV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 762 / 762
position (AA) of stopcodon in wt / mu AA sequence 254 / 254
position of stopcodon in wt / mu cDNA 895 / 895
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 134 / 134
chromosome 19
strand -1
last intron/exon boundary 375
theoretical NMD boundary in CDS 191
length of CDS 762
coding sequence (CDS) position 296
cDNA position
(for ins/del: last normal base / first normal base)		 429
gDNA position
(for ins/del: last normal base / first normal base)		 10674
chromosomal position
(for ins/del: last normal base / first normal base)		 464310
original gDNA sequence snippet CCCAGAGAAGGTGCCCCCTGTGCGCCATCGGACACCGCCGG
altered gDNA sequence snippet CCCAGAGAAGGTGCCCCCTGCGCGCCATCGGACACCGCCGG
original cDNA sequence snippet CCCAGAGAAGGTGCCCCCTGTGCGCCATCGGACACCGCCGG
altered cDNA sequence snippet CCCAGAGAAGGTGCCCCCTGCGCGCCATCGGACACCGCCGG
wildtype AA sequence MGTLSCDSTP RLATAPLGRR VTEGQIPETG LRKSCGTATL ENAPPQDTSP GPIYFLDPKV
TRFGRSCTPA YSMQGRAKSR GPEVTPGPGA YSPEKVPPVR HRTPPAFTLG CRLPLKPLDT
SAPAPNAYTM PPLWGSQIFT KPSSPSYTVV GRTPPARPPQ DPAEIPGPGQ YDSPDANTYR
QRLPAFTMLG RPRAPRPLEE TPGPGAHCPE QVTVNKARAP AFSMGIRHSK RASTMAATTP
SRPAGHRLPG RCC*
mutated AA sequence MGTLSCDSTP RLATAPLGRR VTEGQIPETG LRKSCGTATL ENAPPQDTSP GPIYFLDPKV
TRFGRSCTPA YSMQGRAKSR GPEVTPGPGA YSPEKVPPAR HRTPPAFTLG CRLPLKPLDT
SAPAPNAYTM PPLWGSQIFT KPSSPSYTVV GRTPPARPPQ DPAEIPGPGQ YDSPDANTYR
QRLPAFTMLG RPRAPRPLEE TPGPGAHCPE QVTVNKARAP AFSMGIRHSK RASTMAATTP
SRPAGHRLPG RCC*
speed 1.14 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