Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999337 (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) chr15:94945719G>TN/A show variant in all transcripts   IGV
HGNC symbol MCTP2
Ensembl transcript ID ENST00000331706
Genbank transcript ID N/A
UniProt peptide Q6DN12
alteration type single base exchange
alteration region CDS
DNA changes c.854G>T
cDNA.2155G>T
g.170953G>T
AA changes R285L Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 285
frameshift no
known variant Reference ID: rs7178698
databasehomozygous (T/T)heterozygousallele carriers
1000G99511172112
ExAC5987429210279
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6560
-0.7090
(flanking)-0.0090
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased170951wt: 0.23 / mu: 0.61wt: CAGCACCGCAAAGAG
mu: CAGCACCTCAAAGAG		 GCAC|cgca
Donor increased170955wt: 0.61 / mu: 0.83wt: ACCGCAAAGAGGAAC
mu: ACCTCAAAGAGGAAC		 CGCA|aaga
Acc gained1709510.39mu: CATTGCAATTTCATTCAGCACCTCAAAGAGGAACCACCCCT gcac|CTCA
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      285STLRSTIAFAHRKEEPPLSMKCTL
mutated  not conserved    285STLRSTIAFAHLKEEPPLSMKCT
Ptroglodytes  no alignment  ENSPTRG00000007482  n/a
Mmulatta  no alignment  ENSMMUG00000004787  n/a
Fcatus  no alignment  ENSFCAG00000001135  n/a
Mmusculus  no alignment  ENSMUSG00000032776  n/a
Ggallus  no alignment  ENSGALG00000006981  n/a
Trubripes  no alignment  ENSTRUG00000008044  n/a
Drerio  no alignment  ENSDARG00000073970  n/a
Dmelanogaster  no alignment  FBgn0034389  n/a
Celegans  no alignment  D2092.1  n/a
Xtropicalis  no alignment  ENSXETG00000024140  n/a
protein features
start (aa)end (aa)featuredetails 
343436DOMAINC2 2.might get lost (downstream of altered splice site)
403403CONFLICTQ -> H (in Ref. 1; AAT73060).might get lost (downstream of altered splice site)
496591DOMAINC2 3.might get lost (downstream of altered splice site)
501501CONFLICTS -> P (in Ref. 1; AAT73060).might get lost (downstream of altered splice site)
508520STRANDmight get lost (downstream of altered splice site)
524528STRANDmight get lost (downstream of altered splice site)
532538STRANDmight get lost (downstream of altered splice site)
541544STRANDmight get lost (downstream of altered splice site)
558565STRANDmight get lost (downstream of altered splice site)
570579STRANDmight get lost (downstream of altered splice site)
582586STRANDmight get lost (downstream of altered splice site)
591593STRANDmight get lost (downstream of altered splice site)
594596HELIXmight get lost (downstream of altered splice site)
617628STRANDmight get lost (downstream of altered splice site)
697717TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
802822TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 921 / 921
position (AA) of stopcodon in wt / mu AA sequence 307 / 307
position of stopcodon in wt / mu cDNA 2222 / 2222
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 1302 / 1302
chromosome 15
strand 1
last intron/exon boundary 2151
theoretical NMD boundary in CDS 799
length of CDS 921
coding sequence (CDS) position 854
cDNA position
(for ins/del: last normal base / first normal base)		 2155
gDNA position
(for ins/del: last normal base / first normal base)		 170953
chromosomal position
(for ins/del: last normal base / first normal base)		 94945719
original gDNA sequence snippet TTGCAATTTCATTCAGCACCGCAAAGAGGAACCACCCCTGT
altered gDNA sequence snippet TTGCAATTTCATTCAGCACCTCAAAGAGGAACCACCCCTGT
original cDNA sequence snippet TACAATAGCATTCGCGCACCGCAAAGAGGAACCACCCCTGT
altered cDNA sequence snippet TACAATAGCATTCGCGCACCTCAAAGAGGAACCACCCCTGT
wildtype AA sequence MGILDIEVWG KDNKKHEERL GTCKVDISAL PLKQANCLEL PLDSCLGALL MLVTLTPCAG
VSVSDLCVCP LADLSERKQI TQRYCLQNSL KDVKDVGILQ VKVLKAADLL AADFSGKSDP
FCLLELGNDR LQTHTVYKNL NPEWNKVFTF PIKDIHDVLE VTVFDEDGDK PPDFLGKVAI
PLLSIRDGQP NCYVLKNKDL EQAFKGVIYL EMDLIYNPVK ASIRTFTPRE KRFVEDSRKL
SKKILSRDVD RVKRITMAIW NTMQFLKSCF QWESTLRSTI AFAHRKEEPP LSMKCTLFSG
DIGPSL*
mutated AA sequence MGILDIEVWG KDNKKHEERL GTCKVDISAL PLKQANCLEL PLDSCLGALL MLVTLTPCAG
VSVSDLCVCP LADLSERKQI TQRYCLQNSL KDVKDVGILQ VKVLKAADLL AADFSGKSDP
FCLLELGNDR LQTHTVYKNL NPEWNKVFTF PIKDIHDVLE VTVFDEDGDK PPDFLGKVAI
PLLSIRDGQP NCYVLKNKDL EQAFKGVIYL EMDLIYNPVK ASIRTFTPRE KRFVEDSRKL
SKKILSRDVD RVKRITMAIW NTMQFLKSCF QWESTLRSTI AFAHLKEEPP LSMKCTLFSG
DIGPSL*
speed 0.86 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