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
|
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 | ENST00000376888 |
| Genbank transcript ID | NM_206814 |
| UniProt peptide | Q16653 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.163G>C
cDNA.370G>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 |
|
| 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 |
|
| 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 | | | |
|
| 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) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 396 / 396 |
| position (AA) of stopcodon in wt / mu AA sequence | 132 / 132 |
| position of stopcodon in wt / mu cDNA | 603 / 603 |
| 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 | 208 / 208 |
| chromosome | 6 |
| strand | 1 |
| last intron/exon boundary | 590 |
| theoretical NMD boundary in CDS | 332 |
| length of CDS | 396 |
| coding sequence (CDS) position | 163 |
cDNA position
(for ins/del: last normal base / first normal base) | 370 |
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 FDPHFLRVPC WKITLFVIVP VLGPLVALII CYNWLHRRLA
GQFLEELRNP F* |
| mutated AA sequence | MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITLGLIFL
CLQYRLRGKL RAEIENLHRT FDPHFLRVPC WKITLFVIVP VLGPLVALII CYNWLHRRLA
GQFLEELRNP F* |
| speed | 1.03 s |
|
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