Prediction |
disease causing |
Model: simple_aae, prob: 0.999996978255018 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM940083)
- known disease mutation: rs17828 (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) | chr12:50348446C>TN/A
show variant in all transcripts IGV
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HGNC symbol | AQP2 |
Ensembl transcript ID | ENST00000199280 |
Genbank transcript ID | NM_000486 |
UniProt peptide | P41181 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.559C>T cDNA.644C>T g.3923C>T |
AA changes | R187C Score: 180 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 187 |
frameshift | no |
known variant | Reference ID: rs104894328
database | homozygous (T/T) | heterozygous | allele carriers |
1000G | - | - | - |
ExAC | 0 | 3 | 3 |
known disease mutation: rs17828 (pathogenic for Nephrogenic diabetes insipidus|Diabetes insipidus, nephrogenic, autosomal recessive|not provided) dbSNP
NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM940083)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940083) known disease mutation at this position, please check HGMD for details (HGMD ID CM940083)
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation Promoter Associated, Regulatory Feature, Promoter like regulatory feature USF1, Transcription Factor, USF1 Transcription Factor Binding |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 1.534 | 1 | | 3.218 | 1 | (flanking) | 5.531 | 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 | 3932 | wt: 0.8456 / mu: 0.9091 (marginal change - not scored) | wt: TGAATCCTGCCCGCTCCCTGGCTCCAGCTGTCGTCACTGGC mu: TGAATCCTGCCTGCTCCCTGGCTCCAGCTGTCGTCACTGGC | ctgg|CTCC | Acc marginally increased | 3930 | wt: 0.8564 / mu: 0.8594 (marginal change - not scored) | wt: TATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTCGTCACTG mu: TATGAATCCTGCCTGCTCCCTGGCTCCAGCTGTCGTCACTG | ccct|GGCT | Acc marginally increased | 3923 | wt: 0.2172 / mu: 0.2455 (marginal change - not scored) | wt: GCTGCTCTATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTC mu: GCTGCTCTATGAATCCTGCCTGCTCCCTGGCTCCAGCTGTC | gccc|GCTC | Acc marginally increased | 3931 | wt: 0.8629 / mu: 0.9196 (marginal change - not scored) | wt: ATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTCGTCACTGG mu: ATGAATCCTGCCTGCTCCCTGGCTCCAGCTGTCGTCACTGG | cctg|GCTC | Acc increased | 3927 | wt: 0.45 / mu: 0.73 | wt: CTCTATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTCGTCA mu: CTCTATGAATCCTGCCTGCTCCCTGGCTCCAGCTGTCGTCA | gctc|CCTG |
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distance from splice site | 34 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 187 | I | H | Y | T | G | C | S | M | N | P | A | R | S | L | A | P | A | V | V | T | G | K | F | D |
mutated | not conserved | | 187 | | | | | | C | S | M | N | P | A | C | S | L | A | P | A | V | V | T | G | K | F |
Ptroglodytes | not conserved | ENSPTRG00000004918 | 182 | | | | | | - | - | - | - | - | - | - | - | - | - | - | - | - | - | T | G | K | - |
Mmulatta | all identical | ENSMMUG00000022916 | 187 | | | | | | C | S | M | N | P | A | R | S | L | A | P | A | V | V | T | G | K | F |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000023013 | 187 | | | | | | C | S | M | N | P | A | R | S | L | A | P | A | V | V | T | G | K | F |
Ggallus | no homologue | | | |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | all identical | FBgn0015872 | 195 | I | K | L | S | G | A | S | M | N | P | A | R | S | F | G | | | | | | | | |
Celegans | no homologue | | | |
Xtropicalis | all identical | ENSXETG00000020388 | 187 | | | | | | | | M | N | P | A | R | S | F | G | P | A | A | I | T | G | I | F |
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protein features | start (aa) | end (aa) | feature | details | | 177 | 202 | TOPO_DOM | Extracellular (Potential). | lost | 203 | 224 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 225 | 271 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 229 | 229 | MUTAGEN | S->D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. | might get lost (downstream of altered splice site) | 229 | 229 | MUTAGEN | S->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. | might get lost (downstream of altered splice site) | 231 | 231 | MUTAGEN | S->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. | might get lost (downstream of altered splice site) | 231 | 231 | MUTAGEN | S->D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. | might get lost (downstream of altered splice site) | 244 | 244 | MUTAGEN | T->E: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. | might get lost (downstream of altered splice site) | 244 | 244 | MUTAGEN | T->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. | might get lost (downstream of altered splice site) | 256 | 256 | MOD_RES | Phosphoserine; by PKA. | might get lost (downstream of altered splice site) | 256 | 256 | MUTAGEN | S->A: Retained in vesicles. | might get lost (downstream of altered splice site) | 256 | 256 | MUTAGEN | S->D: Expressed in the apical membrane. | might get lost (downstream of altered splice site) | 261 | 261 | MOD_RES | Phosphoserine (By similarity). | might get lost (downstream of altered splice site) | 264 | 264 | MOD_RES | Phosphoserine (By similarity). | 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 | 816 / 816 |
position (AA) of stopcodon in wt / mu AA sequence | 272 / 272 |
position of stopcodon in wt / mu cDNA | 901 / 901 |
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 | 86 / 86 |
chromosome | 12 |
strand | 1 |
last intron/exon boundary | 692 |
theoretical NMD boundary in CDS | 556 |
length of CDS | 816 |
coding sequence (CDS) position | 559 |
cDNA position (for ins/del: last normal base / first normal base) | 644 |
gDNA position (for ins/del: last normal base / first normal base) | 3923 |
chromosomal position (for ins/del: last normal base / first normal base) | 50348446 |
original gDNA sequence snippet | GCTGCTCTATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTC |
altered gDNA sequence snippet | GCTGCTCTATGAATCCTGCCTGCTCCCTGGCTCCAGCTGTC |
original cDNA sequence snippet | GCTGCTCTATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTC |
altered cDNA sequence snippet | GCTGCTCTATGAATCCTGCCTGCTCCCTGGCTCCAGCTGTC |
wildtype AA sequence | MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL GIGTLVQALG HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG CSMNPARSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL EPDTDWEERE VRRRQSVELH SPQSLPRGTK A* |
mutated AA sequence | MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL GIGTLVQALG HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG CSMNPACSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL EPDTDWEERE VRRRQSVELH SPQSLPRGTK A* |
speed | 0.88 s |
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