Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999995522494 (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
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr6:29634003G>CN/A
show variant in all transcripts IGV
|
HGNC symbol | MOG |
Ensembl transcript ID | ENST00000483013 |
Genbank transcript ID | N/A |
UniProt peptide | Q16653 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.163G>C cDNA.163G>C g.9246G>C |
AA changes | V55L Score: 32 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 55 |
frameshift | no |
known variant | Reference ID: rs2857766
database | homozygous (C/C) | heterozygous | allele carriers |
1000G | 96 | 712 | 808 |
ExAC | 3244 | 19321 | 22565 |
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regulatory features | DNase1, Open Chromatin, DNase1 Hypersensitive Site H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -2.576 | 0 | | -0.014 | 0.013 | (flanking) | 1.411 | 0.179 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | effect | gDNA position | score | wt detection sequence | exon-intron border | Acc marginally increased | 9237 | wt: 0.8208 / mu: 0.8540 (marginal change - not scored) | wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC | ctgc|AGAT | Donor increased | 9238 | wt: 0.25 / mu: 0.49 | wt: CCTGCAGATCACTGT mu: CCTGCAGATCACTCT | TGCA|gatc |
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distance from splice site | 40 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 55 | A | V | L | P | V | L | L | L | Q | I | T | V | G | L | I | F | L | C | L | Q | Y | R | L | R |
mutated | all conserved | | 55 | A | V | L | P | V | L | L | L | Q | I | T | L | G | L | I | F | L | | | | | | |
Ptroglodytes | no homologue | | | |
Mmulatta | all identical | ENSMMUG00000002967 | 171 | A | V | L | P | V | L | L | L | Q | I | T | V | G | L | V | F | L | C | L | Q | Y | R | L |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000076439 | 171 | A | L | V | P | T | I | L | L | Q | V | S | V | G | L | V | F | L | F | L | Q | H | R | L |
Ggallus | no homologue | | | |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 30 | 154 | TOPO_DOM | Extracellular (Potential). | lost | 32 | 145 | DOMAIN | Ig-like V-type. | lost | 53 | 53 | DISULFID | Potential. | might get lost (downstream of altered splice site) | 60 | 60 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 66 | 69 | STRAND | | might get lost (downstream of altered splice site) | 71 | 73 | TURN | | might get lost (downstream of altered splice site) | 74 | 80 | STRAND | | might get lost (downstream of altered splice site) | 82 | 85 | STRAND | | might get lost (downstream of altered splice site) | 87 | 92 | STRAND | | might get lost (downstream of altered splice site) | 96 | 100 | STRAND | | might get lost (downstream of altered splice site) | 104 | 109 | STRAND | | might get lost (downstream of altered splice site) | 112 | 114 | STRAND | | might get lost (downstream of altered splice site) | 125 | 128 | STRAND | | might get lost (downstream of altered splice site) | 127 | 127 | DISULFID | Potential. | might get lost (downstream of altered splice site) | 131 | 133 | STRAND | | might get lost (downstream of altered splice site) | 138 | 140 | STRAND | | might get lost (downstream of altered splice site) | 143 | 145 | STRAND | | might get lost (downstream of altered splice site) | 155 | 175 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 176 | 210 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 211 | 231 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 232 | 247 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) |
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length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 279 / 279 |
position (AA) of stopcodon in wt / mu AA sequence | 93 / 93 |
position of stopcodon in wt / mu cDNA | 279 / 279 |
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 | 1 / 1 |
chromosome | 6 |
strand | 1 |
last intron/exon boundary | 266 |
theoretical NMD boundary in CDS | 215 |
length of CDS | 279 |
coding sequence (CDS) position | 163 |
cDNA position (for ins/del: last normal base / first normal base) | 163 |
gDNA position (for ins/del: last normal base / first normal base) | 9246 |
chromosomal position (for ins/del: last normal base / first normal base) | 29634003 |
original gDNA sequence snippet | TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC |
altered gDNA sequence snippet | TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC |
original cDNA sequence snippet | TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC |
altered cDNA sequence snippet | TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC |
wildtype AA sequence | MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITVGLIFL CLQYRLRGKL RAEIENLHRT FGQFLEELRN PF* |
mutated AA sequence | MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITLGLIFL CLQYRLRGKL RAEIENLHRT FGQFLEELRN PF* |
speed | 0.68 s |
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