Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999991146288722 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM060807)
  • known disease mutation: rs2015 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:135754263C>TN/A show variant in all transcripts   IGV
HGNC symbol AHI1
Ensembl transcript ID ENST00000417892
Genbank transcript ID N/A
UniProt peptide Q8N157
alteration type single base exchange
alteration region CDS
DNA changes c.230G>A
cDNA.360G>A
g.64652G>A
AA changes R77Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 77
frameshift no
known variant Reference ID: rs121434351
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC055

known disease mutation: rs2015 (pathogenic for Joubert syndrome|Joubert syndrome 3|Joubert syndrome with ocular defect) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2440.997
5.7811
(flanking)1.3480.992
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased64652wt: 0.9687 / mu: 0.9952 (marginal change - not scored)wt: GATACGGATATGGAA
mu: GATACAGATATGGAA		 TACG|gata
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      77LVVTGCYDSMIRIWKVEMREDSAI
mutated  all conserved    77LVVTGCYDSMIQIWKVEMREDSA
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000009368  721LVVTGCYDSMIRIWKVEMREDSA
Fcatus  all identical  ENSFCAG00000001813  715VVVTGCYDSVIRIWKVDMREDPA
Mmusculus  all identical  ENSMUSG00000019986  573LVVTGCYDSMIRIWKIDAREDAA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000044056  660LVATGGYDGVLRVWNVDVQDVNG
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000003723  723FVVTGCYDAVIRVWNVNVKESNG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 1627 / 1627
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 131 / 131
chromosome 6
strand -1
last intron/exon boundary 2169
theoretical NMD boundary in CDS 1988
length of CDS 1497
coding sequence (CDS) position 230
cDNA position
(for ins/del: last normal base / first normal base)		 360
gDNA position
(for ins/del: last normal base / first normal base)		 64652
chromosomal position
(for ins/del: last normal base / first normal base)		 135754263
original gDNA sequence snippet ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA
altered gDNA sequence snippet ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA
original cDNA sequence snippet ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA
altered cDNA sequence snippet ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA
wildtype AA sequence MRELCGHLNI IYDLSWSKDD HYILTSSSDG TARIWKNEIN NTNTFRVLPH PSFVYTAKFH
PAVRELVVTG CYDSMIRIWK VEMREDSAIL VRQFDVHKSF INSLCFDTEG HHMYSGDCTG
VIVVWNTYVK INDLEHSVHH WTINKEIKET EFKGIPISYL EIHPNGKRLL IHTKDSTLRI
MDLRILVARK FVGAANYREK IHSTLTPCGT FLFAGSEDGI VYVWNPETGE QVAMYSDLPF
KSPIRDISYH PFENMVAFCA FGQNEPILLY IYDFHVAQQE AEMFKRYNGT FPLPGIHQSQ
DALCTCPKLP HQGSFQIDEF VHTESSSTKM QLVKQRLETV TEVIRSCAAK VNKNLSFTSP
PAVSSQQSKL KQSNMLTAQE ILHQFGFTQT GIISIERKPC NHQVDTAPTV VALYDYTANR
SDELTIHRGD IIRVFFKDNE DWWYGSIGKG QEGYFPANHV ASETLYQELP PEIKERSPPL
SPEEKTKIEK SPAPQKVK*
mutated AA sequence MRELCGHLNI IYDLSWSKDD HYILTSSSDG TARIWKNEIN NTNTFRVLPH PSFVYTAKFH
PAVRELVVTG CYDSMIQIWK VEMREDSAIL VRQFDVHKSF INSLCFDTEG HHMYSGDCTG
VIVVWNTYVK INDLEHSVHH WTINKEIKET EFKGIPISYL EIHPNGKRLL IHTKDSTLRI
MDLRILVARK FVGAANYREK IHSTLTPCGT FLFAGSEDGI VYVWNPETGE QVAMYSDLPF
KSPIRDISYH PFENMVAFCA FGQNEPILLY IYDFHVAQQE AEMFKRYNGT FPLPGIHQSQ
DALCTCPKLP HQGSFQIDEF VHTESSSTKM QLVKQRLETV TEVIRSCAAK VNKNLSFTSP
PAVSSQQSKL KQSNMLTAQE ILHQFGFTQT GIISIERKPC NHQVDTAPTV VALYDYTANR
SDELTIHRGD IIRVFFKDNE DWWYGSIGKG QEGYFPANHV ASETLYQELP PEIKERSPPL
SPEEKTKIEK SPAPQKVK*
speed 0.70 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