Prediction |
disease causing |
Model: simple_aae, prob: 0.999924741757428 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM962570)
- known disease mutation: rs12221 (pathogenic)
- 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) | chr20:3065260A>GN/A
show variant in all transcripts IGV
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HGNC symbol | AVP |
Ensembl transcript ID | ENST00000380293 |
Genbank transcript ID | NM_000490 |
UniProt peptide | P01185 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.61T>C cDNA.111T>C g.111T>C |
AA changes | Y21H Score: 83 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 21 |
frameshift | no |
known variant | Reference ID: rs121964893
Allele 'G' was neither found in ExAC nor 1000G. known disease mutation: rs12221 (pathogenic for Neurohypophyseal diabetes insipidus) dbSNP
NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM962570)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962570) known disease mutation at this position, please check HGMD for details (HGMD ID CM962570)
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regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation DNase1, Open Chromatin, DNase1 Hypersensitive Site |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 5.015 | 1 | | 5.015 | 1 | (flanking) | 1.789 | 1 | 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 | 118 | wt: 0.9124 / mu: 0.9166 (marginal change - not scored) | wt: CTCCTCCGCGTGCTACTTCCAGAACTGCCCGAGGGGCGGCA mu: CTCCTCCGCGTGCCACTTCCAGAACTGCCCGAGGGGCGGCA | tcca|GAAC | Acc marginally increased | 112 | wt: 0.3060 / mu: 0.3334 (marginal change - not scored) | wt: GGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCCCGAGGG mu: GGCCTTCTCCTCCGCGTGCCACTTCCAGAACTGCCCGAGGG | gcta|CTTC | Acc increased | 103 | wt: 0.44 / mu: 0.52 | wt: CGGCCTACTGGCCTTCTCCTCCGCGTGCTACTTCCAGAACT mu: CGGCCTACTGGCCTTCTCCTCCGCGTGCCACTTCCAGAACT | cctc|CGCG | Acc marginally increased | 108 | wt: 0.9703 / mu: 0.9756 (marginal change - not scored) | wt: TACTGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCCCG mu: TACTGGCCTTCTCCTCCGCGTGCCACTTCCAGAACTGCCCG | gcgt|GCTA | Acc marginally increased | 105 | wt: 0.9527 / mu: 0.9671 (marginal change - not scored) | wt: GCCTACTGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGC mu: GCCTACTGGCCTTCTCCTCCGCGTGCCACTTCCAGAACTGC | tccg|CGTG | Acc marginally increased | 106 | wt: 0.9182 / mu: 0.9479 (marginal change - not scored) | wt: CCTACTGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCC mu: CCTACTGGCCTTCTCCTCCGCGTGCCACTTCCAGAACTGCC | ccgc|GTGC | Donor increased | 116 | wt: 0.49 / mu: 0.67 | wt: TACTTCCAGAACTGC mu: CACTTCCAGAACTGC | CTTC|caga | Donor increased | 108 | wt: 0.36 / mu: 0.62 | wt: CCGCGTGCTACTTCC mu: CCGCGTGCCACTTCC | GCGT|gcta |
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distance from splice site | 60 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 21 | F | L | G | L | L | A | F | S | S | A | C | Y | F | Q | N | C | P | R | G | G | K | R | A | M |
mutated | all conserved | | 21 | F | L | G | L | L | A | F | S | S | A | C | H | F | Q | N | C | P | R | G | G | K | R | A |
Ptroglodytes | all identical | ENSPTRG00000013190 | 21 | F | L | G | L | V | A | L | S | S | G | W | Y | F | Q | N | C | P | R | G | G | K | R | A |
Mmulatta | no homologue | | | |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000037727 | 25 | F | L | S | L | L | A | F | S | S | A | C | Y | F | Q | N | C | P | R | G | G | K | R | A |
Ggallus | no homologue | | | |
Trubripes | no homologue | | | |
Drerio | all identical | ENSDARG00000058567 | 23 | V | L | C | V | L | A | L | STLS | S | A | C | Y | I | Q | N | C | P | R | G | G | K | R | S |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 1 | 19 | SIGNAL | | might get lost (downstream of altered splice site) | 20 | 20 | DISULFID | | might get lost (downstream of altered splice site) | 20 | 28 | PEPTIDE | Arg-vasopressin. /FTId=PRO_0000020515. | lost | 25 | 25 | DISULFID | | might get lost (downstream of altered splice site) | 28 | 28 | MOD_RES | Glycine amide. | might get lost (downstream of altered splice site) | 41 | 41 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 44 | 44 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 48 | 48 | CONFLICT | G -> D (in Ref. 5; AAB86629). | might get lost (downstream of altered splice site) | 52 | 52 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 58 | 58 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 59 | 59 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 65 | 65 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 75 | 75 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 85 | 85 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 92 | 92 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 98 | 98 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 104 | 104 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 105 | 105 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 110 | 110 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 116 | 116 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 126 | 164 | PEPTIDE | Copeptin. /FTId=PRO_0000020517. | might get lost (downstream of altered splice site) | 131 | 131 | CARBOHYD | N-linked (GlcNAc...). | 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 | 495 / 495 |
position (AA) of stopcodon in wt / mu AA sequence | 165 / 165 |
position of stopcodon in wt / mu cDNA | 545 / 545 |
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 | 51 / 51 |
chromosome | 20 |
strand | -1 |
last intron/exon boundary | 373 |
theoretical NMD boundary in CDS | 272 |
length of CDS | 495 |
coding sequence (CDS) position | 61 |
cDNA position (for ins/del: last normal base / first normal base) | 111 |
gDNA position (for ins/del: last normal base / first normal base) | 111 |
chromosomal position (for ins/del: last normal base / first normal base) | 3065260 |
original gDNA sequence snippet | TGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCCCGAGG |
altered gDNA sequence snippet | TGGCCTTCTCCTCCGCGTGCCACTTCCAGAACTGCCCGAGG |
original cDNA sequence snippet | TGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCCCGAGG |
altered cDNA sequence snippet | TGGCCTTCTCCTCCGCGTGCCACTTCCAGAACTGCCCGAGG |
wildtype AA sequence | MPDTMLPACF LGLLAFSSAC YFQNCPRGGK RAMSDLELRQ CLPCGPGGKG RCFGPSICCA DELGCFVGTA EALRCQEENY LPSPCQSGQK ACGSGGRCAA FGVCCNDESC VTEPECREGF HRRARASDRS NATQLDGPAG ALLLRLVQLA GAPEPFEPAQ PDAY* |
mutated AA sequence | MPDTMLPACF LGLLAFSSAC HFQNCPRGGK RAMSDLELRQ CLPCGPGGKG RCFGPSICCA DELGCFVGTA EALRCQEENY LPSPCQSGQK ACGSGGRCAA FGVCCNDESC VTEPECREGF HRRARASDRS NATQLDGPAG ALLLRLVQLA GAPEPFEPAQ PDAY* |
speed | 0.88 s |
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