Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 9.26079376597507e-29 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr22:44368122A>GN/A show variant in all transcripts   IGV
HGNC symbol SAMM50
Ensembl transcript ID ENST00000396202
Genbank transcript ID N/A
UniProt peptide Q9Y512
alteration type single base exchange
alteration region intron
DNA changes g.16822A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3761472
databasehomozygous (G/G)heterozygousallele carriers
1000G1778691046
ExAC29881912322111
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.9911
3.1371
(flanking)-0.3160.953
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -51) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased16819wt: 0.6583 / mu: 0.6617 (marginal change - not scored)wt: AATATTTTTTTATTTAGGTGATGACGCACTTCCAAATGGGT
mu: AATATTTTTTTATTTAGGTGATGGCGCACTTCCAAATGGGT		 gtga|TGAC
Acc marginally increased16817wt: 0.2437 / mu: 0.2547 (marginal change - not scored)wt: TTAATATTTTTTTATTTAGGTGATGACGCACTTCCAAATGG
mu: TTAATATTTTTTTATTTAGGTGATGGCGCACTTCCAAATGG		 aggt|GATG
Acc increased16816wt: 0.49 / mu: 0.55wt: TTTAATATTTTTTTATTTAGGTGATGACGCACTTCCAAATG
mu: TTTAATATTTTTTTATTTAGGTGATGGCGCACTTCCAAATG		 tagg|TGAT
Acc marginally increased16814wt: 0.9852 / mu: 0.9861 (marginal change - not scored)wt: TGTTTAATATTTTTTTATTTAGGTGATGACGCACTTCCAAA
mu: TGTTTAATATTTTTTTATTTAGGTGATGGCGCACTTCCAAA		 ttta|GGTG
Acc marginally increased16815wt: 0.9832 / mu: 0.9868 (marginal change - not scored)wt: GTTTAATATTTTTTTATTTAGGTGATGACGCACTTCCAAAT
mu: GTTTAATATTTTTTTATTTAGGTGATGGCGCACTTCCAAAT		 ttag|GTGA
distance from splice site 674
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1010CONFLICTE -> G (in Ref. 5; BAD96377).might get lost (downstream of altered splice site)
368372CONFLICTWAGGL -> LGRRW (in Ref. 1; AAD34046).might get lost (downstream of altered splice site)
371371CONFLICTMissing (in Ref. 8; AAH07830).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 511 / 511
chromosome 22
strand 1
last intron/exon boundary 1245
theoretical NMD boundary in CDS 684
length of CDS 780
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 16822
chromosomal position
(for ins/del: last normal base / first normal base)		 44368122
original gDNA sequence snippet ATTTTTTTATTTAGGTGATGACGCACTTCCAAATGGGTTAG
altered gDNA sequence snippet ATTTTTTTATTTAGGTGATGGCGCACTTCCAAATGGGTTAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSAEYSFPIW KTSHTVKWEG VWRELGCLSR TASFAVRKES GHSLKSSLSH AMVIDSRNSS
ILPRRGALLK VNQELAGYTG GDVSFIKEDF ELQLNKQLIF DSVFSASFWG GMLVPIGDKP
SSIADRFYLG GPTSIRGFSM HSIGPQSEGD YLGGEAYWAG GLHLYTPLPF RPGQGGFGEL
FRTHFFLNAG NLCNLNYGEG PKAHIRKLAE CIRWSYGAGI VLRLGNIARL ELNYCVPMGV
QTGDRICDGV QFGAGIRFL*
mutated AA sequence N/A
speed 0.78 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