Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999940301245294 (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) chr1:43919413A>GN/A show variant in all transcripts   IGV
HGNC symbol HYI
Ensembl transcript ID ENST00000372434
Genbank transcript ID NM_001243526
UniProt peptide Q5T013
alteration type single base exchange
alteration region CDS
DNA changes c.52T>C
cDNA.84T>C
g.248T>C
AA changes S18P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 18
frameshift no
known variant Reference ID: rs6692611
databasehomozygous (G/G)heterozygousallele carriers
1000G89611922088
ExAC315633626518
regulatory features Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7470.998
0.2480.749
(flanking)0.2980.769
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 increased241wt: 0.3548 / mu: 0.3604 (marginal change - not scored)wt: AATCTGTCCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGC
mu: AATCTGTCCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGC		 cccc|GAGC
Acc marginally increased250wt: 0.5757 / mu: 0.5842 (marginal change - not scored)wt: TGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGCGGGTGCG
mu: TGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGCGGGTGCG		 ctcc|GGCC
Acc increased242wt: 0.67 / mu: 0.77wt: ATCTGTCCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCG
mu: ATCTGTCCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCG		 cccg|AGCT
Acc marginally increased243wt: 0.7965 / mu: 0.8685 (marginal change - not scored)wt: TCTGTCCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGC
mu: TCTGTCCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGC		 ccga|GCTC
Acc marginally increased251wt: 0.4838 / mu: 0.5249 (marginal change - not scored)wt: GGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGCGGGTGCGG
mu: GGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGCGGGTGCGG		 tccg|GCCT
distance from splice site 84
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      18SANLSWLFPELSGLPARVRAAGSS
mutated  not conserved    18SANLSWLFPELPGLPARVRAAGS
Ptroglodytes  no alignment  ENSPTRG00000000640  n/a
Mmulatta  not conserved  ENSMMUG00000023675  18SANLSWLFPELPGLPARLRAAGS
Fcatus  not conserved  ENSFCAG00000015117  7FPELPGLPQPIRAAGS
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000010400  18CANISWLFTELPDFSKRIYAAAA
Drerio  not conserved  ENSDARG00000030166  18CANISWLFTELPEFPQRMRAAAS
Dmelanogaster  all conserved  FBgn0011770  17AANLNFLFTERATSIAERIRLAHQ
Celegans  not conserved  C05D11.5  19AANLNMLFTNLP-LLQRYGAAAS
Xtropicalis  not conserved  ENSXETG00000002253  15SANISWLFQDVPDFPGRIEAASQ
protein features
start (aa)end (aa)featuredetails 
1818CONFLICTS -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041).lost
224224CONFLICTS -> KP (in Ref. 1; AAV84474).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 909 / 909
position (AA) of stopcodon in wt / mu AA sequence 303 / 303
position of stopcodon in wt / mu cDNA 941 / 941
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 33 / 33
chromosome 1
strand -1
last intron/exon boundary 868
theoretical NMD boundary in CDS 785
length of CDS 909
coding sequence (CDS) position 52
cDNA position
(for ins/del: last normal base / first normal base)		 84
gDNA position
(for ins/del: last normal base / first normal base)		 248
chromosomal position
(for ins/del: last normal base / first normal base)		 43919413
original gDNA sequence snippet CCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGCGGGTG
altered gDNA sequence snippet CCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGCGGGTG
original cDNA sequence snippet CCTGGCTATTCCCCGAGCTCTCCGGCCTCCCCGCGCGGGTG
altered cDNA sequence snippet CCTGGCTATTCCCCGAGCTCCCCGGCCTCCCCGCGCGGGTG
wildtype AA sequence MAPLRFSANL SWLFPELSGL PARVRAAGSS GFEAVEVAWP YAETPEALAR AAREAGLRLV
LINTPPGDQE KGEMGLGAVP GRQAAFREGL EQAVRSGHCL MGRKLSVPCK GAVARGGLVY
LAAFLRLDMI HLMAGRVPQG ADRIAVKAEM EAVFLENLRH AAGVLAQEDL VGLLEPINTR
ITDPQYFLDT PQQAAAILQK VGRPNLQLQM DIFHWQIMDG NLTGNIREFL PIVGHVQVAQ
VPGRGEPSSP GELNFPYLFQ LLEDEGYKGF VGCEYQPRGD TVEGLSWLRS YWDRRGHPEA
GQ*
mutated AA sequence MAPLRFSANL SWLFPELPGL PARVRAAGSS GFEAVEVAWP YAETPEALAR AAREAGLRLV
LINTPPGDQE KGEMGLGAVP GRQAAFREGL EQAVRSGHCL MGRKLSVPCK GAVARGGLVY
LAAFLRLDMI HLMAGRVPQG ADRIAVKAEM EAVFLENLRH AAGVLAQEDL VGLLEPINTR
ITDPQYFLDT PQQAAAILQK VGRPNLQLQM DIFHWQIMDG NLTGNIREFL PIVGHVQVAQ
VPGRGEPSSP GELNFPYLFQ LLEDEGYKGF VGCEYQPRGD TVEGLSWLRS YWDRRGHPEA
GQ*
speed 1.10 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