Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999964313 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031608)
  • known disease mutation: rs18267 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:130634986C>TN/A show variant in all transcripts   IGV
HGNC symbol AK1
Ensembl transcript ID ENST00000373176
Genbank transcript ID NM_000476
UniProt peptide P00568
alteration type single base exchange
alteration region CDS
DNA changes c.190G>A
cDNA.343G>A
g.5037G>A
AA changes G64R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 64
frameshift no
known variant Reference ID: rs137853205
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs18267 (pathogenic for Adenylate kinase deficiency, hemolytic anemia due to) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031608)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031608)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031608)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.5881
5.5881
(flanking)0.9791
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5032wt: 0.58 / mu: 0.99wt: CATGGAGAAGGGGCA
mu: CATGGAGAAGAGGCA		 TGGA|gaag
Donor gained50410.31mu: GAGGCAGCTGGTTCC GGCA|gctg
Donor gained50290.39mu: AATCATGGAGAAGAG TCAT|ggag
Donor gained50370.73mu: AGAAGAGGCAGCTGG AAGA|ggca
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      64RGKKLSEIMEKGQLVPLETVLDML
mutated  not conserved    64MEKRQLVPLETVLDM
Ptroglodytes  all identical  ENSPTRG00000021402  64MEKGQLVPLETVLDM
Mmulatta  all identical  ENSMMUG00000013998  80KGQLVPLETVLDM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026817  80KGELVPLDTVLDM
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006830  81MQKGELVPLDTVLDM
Drerio  all identical  ENSDARG00000001950  64MQKGELVPLDTVLDM
Dmelanogaster  all identical  FBgn0022709  88KGRQLQAVMASGGLVSNDEVLSL
Celegans  all identical  F38B2.4  76RGAQLTAIMESGALVPL
Xtropicalis  all identical  ENSXETG00000021999  431KGELVPLDTVLDM
protein features
start (aa)end (aa)featuredetails 
5262HELIXmight get lost (downstream of altered splice site)
6983HELIXmight get lost (downstream of altered splice site)
8486TURNmight get lost (downstream of altered splice site)
9094STRANDmight get lost (downstream of altered splice site)
94101NP_BINDAMP (By similarity).might get lost (downstream of altered splice site)
99108HELIXmight get lost (downstream of altered splice site)
113119STRANDmight get lost (downstream of altered splice site)
122133HELIXmight get lost (downstream of altered splice site)
127127CONFLICTQ -> R (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
135137STRANDmight get lost (downstream of altered splice site)
139141HELIXmight get lost (downstream of altered splice site)
143156HELIXmight get lost (downstream of altered splice site)
158167HELIXmight get lost (downstream of altered splice site)
170174STRANDmight get lost (downstream of altered splice site)
179193HELIXmight get lost (downstream of altered splice site)
181181CONFLICTS -> E (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 585 / 585
position (AA) of stopcodon in wt / mu AA sequence 195 / 195
position of stopcodon in wt / mu cDNA 738 / 738
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 154 / 154
chromosome 9
strand -1
last intron/exon boundary 670
theoretical NMD boundary in CDS 466
length of CDS 585
coding sequence (CDS) position 190
cDNA position
(for ins/del: last normal base / first normal base)		 343
gDNA position
(for ins/del: last normal base / first normal base)		 5037
chromosomal position
(for ins/del: last normal base / first normal base)		 130634986
original gDNA sequence snippet TGTCGGAAATCATGGAGAAGGGGCAGCTGGTTCCACTGGTG
altered gDNA sequence snippet TGTCGGAAATCATGGAGAAGAGGCAGCTGGTTCCACTGGTG
original cDNA sequence snippet TGTCGGAAATCATGGAGAAGGGGCAGCTGGTTCCACTGGAG
altered cDNA sequence snippet TGTCGGAAATCATGGAGAAGAGGCAGCTGGTTCCACTGGAG
wildtype AA sequence MEEKLKKTKI IFVVGGPGSG KGTQCEKIVQ KYGYTHLSTG DLLRSEVSSG SARGKKLSEI
MEKGQLVPLE TVLDMLRDAM VAKVNTSKGF LIDGYPREVQ QGEEFERRIG QPTLLLYVDA
GPETMTQRLL KRGETSGRVD DNEETIKKRL ETYYKATEPV IAFYEKRGIV RKVNAEGSVD
SVFSQVCTHL DALK*
mutated AA sequence MEEKLKKTKI IFVVGGPGSG KGTQCEKIVQ KYGYTHLSTG DLLRSEVSSG SARGKKLSEI
MEKRQLVPLE TVLDMLRDAM VAKVNTSKGF LIDGYPREVQ QGEEFERRIG QPTLLLYVDA
GPETMTQRLL KRGETSGRVD DNEETIKKRL ETYYKATEPV IAFYEKRGIV RKVNAEGSVD
SVFSQVCTHL DALK*
speed 0.25 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