Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.56723534466806e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM062777)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:656143C>AN/A show variant in all transcripts   IGV
HGNC symbol HUS1B
Ensembl transcript ID ENST00000380907
Genbank transcript ID NM_148959
UniProt peptide Q8NHY5
alteration type single base exchange
alteration region CDS
DNA changes c.802G>T
cDNA.821G>T
g.821G>T
AA changes D268Y Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 268
frameshift no
known variant Reference ID: rs1211554
databasehomozygous (A/A)heterozygousallele carriers
1000G14727622234
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM062777)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7450.775
0.2640.774
(flanking)0.0730.784
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased811wt: 0.9703 / mu: 0.9732 (marginal change - not scored)wt: ACTCTTCTTCAGCTTGTTTTGGTTCAAGAAGATGTCTCTCT
mu: ACTCTTCTTCAGCTTGTTTTGGTTCAAGAATATGTCTCTCT		 tttg|GTTC
Acc marginally increased817wt: 0.9678 / mu: 0.9719 (marginal change - not scored)wt: CTTCAGCTTGTTTTGGTTCAAGAAGATGTCTCTCTTCAGTA
mu: CTTCAGCTTGTTTTGGTTCAAGAATATGTCTCTCTTCAGTA		 tcaa|GAAG
Acc marginally increased812wt: 0.7158 / mu: 0.7523 (marginal change - not scored)wt: CTCTTCTTCAGCTTGTTTTGGTTCAAGAAGATGTCTCTCTT
mu: CTCTTCTTCAGCTTGTTTTGGTTCAAGAATATGTCTCTCTT		 ttgg|TTCA
distance from splice site 205
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      268NTLLQLVLVQEDVSLQYFIPAL*
mutated  not conserved    268NTLLQLVLVQEYVSLQYFIPAL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023562  268NSLLQLVLVQGDVSLQYFIPAL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076430  266NTLLHLVLVHEDISLQYFIPA
Ggallus  all identical  ENSGALG00000012450  273KRIAHFILLHEDVSLQYFIPAL
Trubripes  all identical  ENSTRUG00000005081  274DTVVHLILLHEDVSLQYFIPAV
Drerio  all identical  ENSDARG00000061380  273GRILHLIFLHEDVSLQYFIPAV
Dmelanogaster  all identical  FBgn0026417  265EHSIHLQIDVRQDVVLHSILPAV
Celegans  all identical  H26D21.1  265NRMAEFNFHNEDCVLSYIV
Xtropicalis  all identical  ENSXETG00000015679  271KRMVHFILLHEDVSLQYFIPAL
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 837 / 837
position (AA) of stopcodon in wt / mu AA sequence 279 / 279
position of stopcodon in wt / mu cDNA 856 / 856
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 20 / 20
chromosome 6
strand -1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 837
coding sequence (CDS) position 802
cDNA position
(for ins/del: last normal base / first normal base)		 821
gDNA position
(for ins/del: last normal base / first normal base)		 821
chromosomal position
(for ins/del: last normal base / first normal base)		 656143
original gDNA sequence snippet AGCTTGTTTTGGTTCAAGAAGATGTCTCTCTTCAGTATTTC
altered gDNA sequence snippet AGCTTGTTTTGGTTCAAGAATATGTCTCTCTTCAGTATTTC
original cDNA sequence snippet AGCTTGTTTTGGTTCAAGAAGATGTCTCTCTTCAGTATTTC
altered cDNA sequence snippet AGCTTGTTTTGGTTCAAGAATATGTCTCTCTTCAGTATTTC
wildtype AA sequence MKFRAKITGK GCLELFIHVS GTVARLAKVC VLRVRPDSLC FGPAGSGGLH EARLWCEVRQ
GAFQQFRMEG VSEDLDEIHL ELTAEHLSRA ARSAAGASSL KLQLTHKRRP SLTVAVELVS
SLGRARSVVH DLPVRVLPRR VWRDCLPPSL RASDASIRLP RWRTLRSIVE RMANVGSHVL
VEANLSGRMT LSIETEVVSI QSYFKNLGNP PQSAVGVPEN RDLESMVQVR VDNRKLLQFL
EGQQIHPTTA LCNIWDNTLL QLVLVQEDVS LQYFIPAL*
mutated AA sequence MKFRAKITGK GCLELFIHVS GTVARLAKVC VLRVRPDSLC FGPAGSGGLH EARLWCEVRQ
GAFQQFRMEG VSEDLDEIHL ELTAEHLSRA ARSAAGASSL KLQLTHKRRP SLTVAVELVS
SLGRARSVVH DLPVRVLPRR VWRDCLPPSL RASDASIRLP RWRTLRSIVE RMANVGSHVL
VEANLSGRMT LSIETEVVSI QSYFKNLGNP PQSAVGVPEN RDLESMVQVR VDNRKLLQFL
EGQQIHPTTA LCNIWDNTLL QLVLVQEYVS LQYFIPAL*
speed 0.72 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