Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999908 (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) chr4:83582064G>TN/A show variant in all transcripts   IGV
HGNC symbol SCD5
Ensembl transcript ID ENST00000273908
Genbank transcript ID NM_024906
UniProt peptide Q86SK9
alteration type single base exchange
alteration region CDS
DNA changes c.736C>A
cDNA.971C>A
g.137947C>A
AA changes L246M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 246
frameshift no
known variant Reference ID: rs3733228
databasehomozygous (T/T)heterozygousallele carriers
1000G2859461231
ExAC73641803925403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2580
2.4810.005
(flanking)-0.5210
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 167
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      246HCNHSEKCCLMLRALSVSLEVF*
mutated  all conserved    246KCCLMMRALSVSLEVF
Ptroglodytes  no alignment  ENSPTRG00000016220  n/a
Mmulatta  no alignment  ENSMMUG00000000866  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no alignment  ENSGALG00000011173  n/a
Trubripes  no alignment  ENSTRUG00000012356  n/a
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0086687  n/a
Celegans  no alignment  W06D12.3  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 771 / 771
position (AA) of stopcodon in wt / mu AA sequence 257 / 257
position of stopcodon in wt / mu cDNA 1006 / 1006
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 236 / 236
chromosome 4
strand -1
last intron/exon boundary 805
theoretical NMD boundary in CDS 519
length of CDS 771
coding sequence (CDS) position 736
cDNA position
(for ins/del: last normal base / first normal base)		 971
gDNA position
(for ins/del: last normal base / first normal base)		 137947
chromosomal position
(for ins/del: last normal base / first normal base)		 83582064
original gDNA sequence snippet CCGAAAAGTGCTGCTTGATGCTGCGTGCTCTTTCTGTGTCC
altered gDNA sequence snippet CCGAAAAGTGCTGCTTGATGATGCGTGCTCTTTCTGTGTCC
original cDNA sequence snippet CCGAAAAGTGCTGCTTGATGCTGCGTGCTCTTTCTGTGTCC
altered cDNA sequence snippet CCGAAAAGTGCTGCTTGATGATGCGTGCTCTTTCTGTGTCC
wildtype AA sequence MPGPATDAGK IPFCDAKEEI RAGLESSEGG GGPERPGARG QRQNIVWRNV VLMSLLHLGA
VYSLVLIPKA KPLTLLWAYF CFLLAALGVT AGAHRLWSHR SYRAKLPLRI FLAVANSMAF
QNDIFEWSRD HRAHHKYSET DADPHNARRG FFFSHIGWLF VRKHRDVIEK GRKLDVTDLL
ADPVVRIQRN TQHIQKEGRA LNQEAACEML REWHQGHILK VTLPGLHILA LLHTHCNHSE
KCCLMLRALS VSLEVF*
mutated AA sequence MPGPATDAGK IPFCDAKEEI RAGLESSEGG GGPERPGARG QRQNIVWRNV VLMSLLHLGA
VYSLVLIPKA KPLTLLWAYF CFLLAALGVT AGAHRLWSHR SYRAKLPLRI FLAVANSMAF
QNDIFEWSRD HRAHHKYSET DADPHNARRG FFFSHIGWLF VRKHRDVIEK GRKLDVTDLL
ADPVVRIQRN TQHIQKEGRA LNQEAACEML REWHQGHILK VTLPGLHILA LLHTHCNHSE
KCCLMMRALS VSLEVF*
speed 0.60 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