Prediction |
disease causing |
Model: simple_aae, prob: 0.498488126753551 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
| Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM060828)
- known disease mutation: rs18078 (pathogenic)
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr14:21161914A>TN/A
show variant in all transcripts IGV
|
| HGNC symbol | ANG |
| Ensembl transcript ID | ENST00000336811 |
| Genbank transcript ID | NM_001145 |
| UniProt peptide | P03950 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.191A>T
cDNA.791A>T
g.9579A>T |
| AA changes | K64I Score: 102 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 64 |
| frameshift | no |
| known variant | Reference ID: rs121909540
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18078 (pathogenic for Amyotrophic lateral sclerosis type 9) dbSNP
NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060828)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060828)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060828)
|
| regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | 2.378 | 1 | | 2.456 | 1 | | (flanking) | 0.65 | 0.988 |
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 increased | 9577 | wt: 0.30 / mu: 0.69 | wt: CGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTAT
mu: CGGGGCCTGACCTCACCCTGCATAGACATCAACACATTTAT | ctgc|AAAG |
|
| distance from splice site | 209 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 64 | I | M | R | R | R | G | L | T | S | P | C | K | D | I | N | T | F | I | H | G | N | K | R | S |
| mutated | not conserved | | 64 | | | | | | | | | S | P | C | I | D | I | N | T | F | I | H | G | N | K | R |
| Ptroglodytes | all identical | ENSPTRG00000034128 | 64 | | | | | | | | | S | P | C | K | D | I | N | T | F | I | H | G | N | K | R |
| Mmulatta | no homologue | | | |
| Fcatus | no homologue | | | |
| Mmusculus | all identical | ENSMUSG00000072115 | 64 | | | | | | | | | S | P | C | K | D | V | N | T | F | I | H | G | N | K | S |
| 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 | | | 60 | 63 | TURN | | might get lost (downstream of altered splice site) | | 63 | 63 | DISULFID | | might get lost (downstream of altered splice site) | | 64 | 64 | MUTAGEN | K->Q: Significantly decreases binding affinity for RNH1. | lost | | 64 | 68 | REGION | Substrate binding. | lost | | 65 | 70 | STRAND | | might get lost (downstream of altered splice site) | | 74 | 78 | HELIX | | might get lost (downstream of altered splice site) | | 79 | 81 | HELIX | | might get lost (downstream of altered splice site) | | 81 | 81 | DISULFID | | might get lost (downstream of altered splice site) | | 83 | 85 | TURN | | might get lost (downstream of altered splice site) | | 86 | 89 | STRAND | | might get lost (downstream of altered splice site) | | 90 | 92 | TURN | | might get lost (downstream of altered splice site) | | 92 | 92 | MUTAGEN | N->A: Slightly decreases binding affinity for RNH1. | might get lost (downstream of altered splice site) | | 93 | 98 | STRAND | | might get lost (downstream of altered splice site) | | 100 | 110 | STRAND | | might get lost (downstream of altered splice site) | | 105 | 105 | DISULFID | | might get lost (downstream of altered splice site) | | 109 | 110 | MUTAGEN | GG->RR: Significantly decreases binding affinity for RNH1. | might get lost (downstream of altered splice site) | | 112 | 115 | STRAND | | might get lost (downstream of altered splice site) | | 116 | 116 | DISULFID | | might get lost (downstream of altered splice site) | | 117 | 125 | STRAND | | might get lost (downstream of altered splice site) | | 128 | 132 | STRAND | | might get lost (downstream of altered splice site) | | 131 | 131 | DISULFID | | might get lost (downstream of altered splice site) | | 132 | 132 | MUTAGEN | E->A: Slightly decreases binding affinity for RNH1. | might get lost (downstream of altered splice site) | | 135 | 139 | STRAND | | might get lost (downstream of altered splice site) | | 138 | 138 | ACT_SITE | Proton donor. | might get lost (downstream of altered splice site) | | 140 | 140 | MUTAGEN | D->H,S,A: 15- to 18-fold increase in RNase activity. | might get lost (downstream of altered splice site) | | 141 | 141 | MUTAGEN | Q->G: Over 18-fold increase in RNase activity. | might get lost (downstream of altered splice site) | | 141 | 144 | HELIX | | might get lost (downstream of altered splice site) | | 143 | 144 | MUTAGEN | IF->AA: 3- to 5-fold increase in RNase activity. | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 444 / 444 |
| position (AA) of stopcodon in wt / mu AA sequence | 148 / 148 |
| position of stopcodon in wt / mu cDNA | 1044 / 1044 |
| 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 | 601 / 601 |
| chromosome | 14 |
| strand | 1 |
| last intron/exon boundary | 583 |
| theoretical NMD boundary in CDS | cannot be calculated, too little distance between start ATG and last intron/exon boundary |
| length of CDS | 444 |
| coding sequence (CDS) position | 191 |
cDNA position
(for ins/del: last normal base / first normal base) | 791 |
gDNA position
(for ins/del: last normal base / first normal base) | 9579 |
chromosomal position
(for ins/del: last normal base / first normal base) | 21161914 |
| original gDNA sequence snippet | GGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTC |
| altered gDNA sequence snippet | GGGCCTGACCTCACCCTGCATAGACATCAACACATTTATTC |
| original cDNA sequence snippet | GGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTC |
| altered cDNA sequence snippet | GGGCCTGACCTCACCCTGCATAGACATCAACACATTTATTC |
| wildtype AA sequence | MVMGLGVLLL VFVLGLGLTP PTLAQDNSRY THFLTQHYDA KPQGRDDRYC ESIMRRRGLT
SPCKDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP* |
| mutated AA sequence | MVMGLGVLLL VFVLGLGLTP PTLAQDNSRY THFLTQHYDA KPQGRDDRYC ESIMRRRGLT
SPCIDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP* |
| speed | 0.28 s |
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