Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999972030642 (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) chr11:4976241C>GN/A show variant in all transcripts   IGV
HGNC symbol MMP26
Ensembl transcript ID ENST00000380390
Genbank transcript ID NM_021801
UniProt peptide Q9NRE1
alteration type single base exchange
alteration region intron
DNA changes g.250085C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2570571
databasehomozygous (G/G)heterozygousallele carriers
1000G311536847
ExAC6037874014777
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.430
-1.8010
(flanking)-4.4370
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -47) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor gained2500810.48mu: CCTTAAGCTGCTCCT TTAA|gctg
distance from splice site 33057
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
117SIGNALPotential.might get lost (downstream of altered splice site)
1889PROPEPBy similarity. /FTId=PRO_0000028855.might get lost (downstream of altered splice site)
6464CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
7171CONFLICTM -> I (in Ref. 1; AAF80180).might get lost (downstream of altered splice site)
8087MOTIFCysteine switch (By similarity).might get lost (downstream of altered splice site)
8282METALZinc; in inhibited form (By similarity).might get lost (downstream of altered splice site)
208208METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
209209ACT_SITEBy similarity.might get lost (downstream of altered splice site)
212212METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
218218METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
221221CARBOHYDN-linked (GlcNAc...) (Potential).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 217 / 217
chromosome 11
strand 1
last intron/exon boundary 974
theoretical NMD boundary in CDS 707
length of CDS 786
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)		 250085
chromosomal position
(for ins/del: last normal base / first normal base)		 4976241
original gDNA sequence snippet AGTATTGAGAGCCTTAAGCTCCTCCTTTTTGGATGCAATTC
altered gDNA sequence snippet AGTATTGAGAGCCTTAAGCTGCTCCTTTTTGGATGCAATTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MQLVILRVTI FLPWCFAVPV PPAADHKGWD FVEGYFHQFF LTKKESPLLT QETQTQLLQQ
FHRNGTDLLD MQMHALLHQP HCGVPDGSDT SISPGRCKWN KHTLTYRIIN YPHDMKPSAV
KDSIYNAVSI WSNVTPLIFQ QVQNGDADIK VSFWQWAHED GWPFDGPGGI LGHAFLPNSG
NPGVVHFDKN EHWSASDTGY NLFLVATHEI GHSLGLQHSG NQSSIMYPTY WYHDPRTFQL
SADDIQRIQH LYGEKCSSDI P*
mutated AA sequence N/A
speed 1.33 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