Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0118260607278369 (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) chr2:241631413T>GN/A show variant in all transcripts   IGV
HGNC symbol AQP12A
Ensembl transcript ID ENST00000429564
Genbank transcript ID N/A
UniProt peptide Q8IXF9
alteration type single base exchange
alteration region CDS
DNA changes c.83T>G
cDNA.146T>G
g.152T>G
AA changes L28R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 28
frameshift no
known variant Reference ID: rs71428454
databasehomozygous (G/G)heterozygousallele carriers
1000G212577789
ExAC67911850425295
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.3810.873
2.5810.987
(flanking)0.4810.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1460.70mu: CTCCAAGGCCCGGCT CCAA|ggcc
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      28LCEAARRASKALLPVGAYEVFARE
mutated  not conserved    28LCEAARRASKARLPVGAYEVFAR
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000031103  28LCEGARRASKALLPVGAYEGLAR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000045091  28ICEVARRASKALLPAGTYASFAR
Ggallus  all identical  ENSGALG00000006436  28TCEAFRRLSKRLLAPGLLVCLTA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000043279  28LSVSGR------LLLRRWTVLL-
Dmelanogaster  all identical  FBgn0033807  30LAQIARVISRRLVTREGLVPILIN
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
5575TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
8183MOTIFNPA 1.might get lost (downstream of altered splice site)
100126TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
146166TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
179199TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
200202MOTIFNPA 2.might get lost (downstream of altered splice site)
216236TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 924 / 924
position (AA) of stopcodon in wt / mu AA sequence 308 / 308
position of stopcodon in wt / mu cDNA 987 / 987
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 64 / 64
chromosome 2
strand 1
last intron/exon boundary 788
theoretical NMD boundary in CDS 674
length of CDS 924
coding sequence (CDS) position 83
cDNA position
(for ins/del: last normal base / first normal base)		 146
gDNA position
(for ins/del: last normal base / first normal base)		 152
chromosomal position
(for ins/del: last normal base / first normal base)		 241631413
original gDNA sequence snippet CAGGCGGGCCTCCAAGGCCCTGCTCCCAGTGGGCGCCTATG
altered gDNA sequence snippet CAGGCGGGCCTCCAAGGCCCGGCTCCCAGTGGGCGCCTATG
original cDNA sequence snippet CAGGCGGGCCTCCAAGGCCCTGCTCCCAGTGGGCGCCTATG
altered cDNA sequence snippet CAGGCGGGCCTCCAAGGCCCGGCTCCCAGTGGGCGCCTATG
wildtype AA sequence MAGLNVSLSF FFATFALCEA ARRASKALLP VGAYEVFARE AVGAVQLGPC CLEMRTLVEL
GPWAGDFGPD LLLTLLFLLF LAHGVTLDGA SANPTVSLQE FLMAEQSLPG TLLKLAAQGL
GMQAACTLMR LCWAWELSDL HLLQSLMAQS CSSALRTSVP HGALVEAACA FCFHLTLLHL
RHSPPAYSGP AVALLVTVTA YTAGPFTSAF FNPALAASVT FACSGHTLLE YVQVYWLGPL
TGMVLAVLLH QGRLPHLFQR NLFYGQKNKY RAPRGKPAPA SGDTQTPAKG SSVREPGRSG
VEGPHSS*
mutated AA sequence MAGLNVSLSF FFATFALCEA ARRASKARLP VGAYEVFARE AVGAVQLGPC CLEMRTLVEL
GPWAGDFGPD LLLTLLFLLF LAHGVTLDGA SANPTVSLQE FLMAEQSLPG TLLKLAAQGL
GMQAACTLMR LCWAWELSDL HLLQSLMAQS CSSALRTSVP HGALVEAACA FCFHLTLLHL
RHSPPAYSGP AVALLVTVTA YTAGPFTSAF FNPALAASVT FACSGHTLLE YVQVYWLGPL
TGMVLAVLLH QGRLPHLFQR NLFYGQKNKY RAPRGKPAPA SGDTQTPAKG SSVREPGRSG
VEGPHSS*
speed 1.10 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