Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999995333653647 (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) chr19:49539560T>CN/A show variant in all transcripts   IGV
HGNC symbol CGB1
Ensembl transcript ID ENST00000301407
Genbank transcript ID NM_033377
UniProt peptide A6NKQ9
alteration type single base exchange
alteration region CDS
DNA changes c.10A>G
cDNA.115A>G
g.12447A>G
AA changes R4G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs62126040
databasehomozygous (C/C)heterozygousallele carriers
1000G152837989
ExAC22482032622574
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.3270.997
0.3380.998
(flanking)1.3270.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost12446.5sequence motif lost- wt: ccca|GAGG
 mu: ccca.GGGG
Acc marginally increased12445wt: 0.2684 / mu: 0.3475 (marginal change - not scored)wt: TGAAGCAGTGTCCTTGCCCCAGAGGCTGCTGCTGTTGCTGC
mu: TGAAGCAGTGTCCTTGCCCCAGGGGCTGCTGCTGTTGCTGC		 ccca|GAGG
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MSKRLLLLLLLSMGGT
mutated  not conserved    4 MSKGLLLLLLLSMGGTWASKEP
Ptroglodytes  not conserved  ENSPTRG00000034144  9 MFQGLLLLLLLSMGGTWASKEP
Mmulatta  no alignment  ENSMMUG00000003917  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000038194  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000035709  n/a
Dmelanogaster  no alignment  FBgn0063368  n/a
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000021249  n/a
protein features
start (aa)end (aa)featuredetails 
150SIGNALPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 468 / 468
position (AA) of stopcodon in wt / mu AA sequence 156 / 156
position of stopcodon in wt / mu cDNA 573 / 573
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 106 / 106
chromosome 19
strand -1
last intron/exon boundary 283
theoretical NMD boundary in CDS 127
length of CDS 468
coding sequence (CDS) position 10
cDNA position
(for ins/del: last normal base / first normal base)		 115
gDNA position
(for ins/del: last normal base / first normal base)		 12447
chromosomal position
(for ins/del: last normal base / first normal base)		 49539560
original gDNA sequence snippet AAGCAGTGTCCTTGCCCCAGAGGCTGCTGCTGTTGCTGCTG
altered gDNA sequence snippet AAGCAGTGTCCTTGCCCCAGGGGCTGCTGCTGTTGCTGCTG
original cDNA sequence snippet AAGAGAGAGACATGTCAAAGAGGCTGCTGCTGTTGCTGCTG
altered cDNA sequence snippet AAGAGAGAGACATGTCAAAGGGGCTGCTGCTGTTGCTGCTG
wildtype AA sequence MSKRLLLLLL LSMGGTWASK EPLRPRCRPI NATLAVEKEG CPVCITVNTT ICAGYCPTMT
RVLQGVLPAL PQVVCNYRDV RFESIRLPGC PRGVNPVVSY AVALSCQCAL CRRSTTDCGG
PKDHPLTCDD PRFQDSSSSK APPPSLPSPS RLPGP*
mutated AA sequence MSKGLLLLLL LSMGGTWASK EPLRPRCRPI NATLAVEKEG CPVCITVNTT ICAGYCPTMT
RVLQGVLPAL PQVVCNYRDV RFESIRLPGC PRGVNPVVSY AVALSCQCAL CRRSTTDCGG
PKDHPLTCDD PRFQDSSSSK APPPSLPSPS RLPGP*
speed 1.05 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