Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999711 (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) | chr12:133306589C>TN/A
show variant in all transcripts IGV
|
| HGNC symbol | ANKLE2 |
| Ensembl transcript ID | ENST00000542282 |
| Genbank transcript ID | N/A |
| UniProt peptide | Q86XL3 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.224G>A
cDNA.2208G>A
g.31886G>A |
| AA changes | R75H Score: 29 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 75 |
| frameshift | no |
| known variant | Reference ID: rs10781634
| database | homozygous (T/T) | heterozygous | allele carriers |
| 1000G | 202 | 834 | 1036 |
| ExAC | 7626 | 17515 | 25141 |
|
| regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | -0.614 | 0 | | 0.224 | 0 | | (flanking) | -3.04 | 0 |
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 | | Donor increased | 31888 | wt: 0.24 / mu: 0.64 | wt: CCCGTGGGGAGGAAG
mu: CCCATGGGGAGGAAG | CGTG|ggga | | Donor marginally increased | 31887 | wt: 0.9115 / mu: 0.9755 (marginal change - not scored) | wt: CCCCGTGGGGAGGAA
mu: CCCCATGGGGAGGAA | CCGT|gggg | | Donor increased | 31891 | wt: 0.64 / mu: 0.74 | wt: GTGGGGAGGAAGCCC
mu: ATGGGGAGGAAGCCC | GGGG|agga |
|
| distance from splice site | 325 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 75 | R | T | L | A | G | K | R | P | K | A | P | R | G | E | E | A | H | L | P | P | V | S | D | L |
| mutated | not conserved | | 75 | R | T | L | A | G | K | R | P | K | A | P | H | G | E | E | A | H | L | P | P | V | S | D |
| Ptroglodytes | no homologue | | | |
| Mmulatta | all identical | ENSMMUG00000015467 | 92 | R | T | L | V | G | K | R | P | K | A | P | R | G | E | E | A | H | L | P | P | V | S | D |
| Fcatus | not conserved | ENSFCAG00000002504 | 624 | Q | T | L | G | R | R | R | T | E | A | P | H | G | E | E | A | L | L | S | P | V | P | G |
| Mmusculus | not conserved | ENSMUSG00000029501 | 733 | R | T | A | D | G | R | G | L | E | A | T | N | G | E | E | A | L | P | P | P | V | S | V |
| Ggallus | no homologue | | | |
| Trubripes | not conserved | ENSTRUG00000013275 | 679 | R | T | H | N | G | E | KMG | P | R | S | P | - | A | S | S | T | M | L | S | P | V | S | N |
| Drerio | not conserved | ENSDARG00000035607 | 666 | R | T | P | N | G | D | K | V | - | S | P | RICGS | S | N | S | C | M | L | S | P | I | S | N |
| Dmelanogaster | no alignment | FBgn0028343 | n/a | |
| Celegans | no alignment | Y55F3BR.8 | n/a | |
| Xtropicalis | not conserved | ENSXETG00000023848 | 657 | Q | Y | L | P | G | E | S | - | R | H | K | G | V | H | E | G | M | L | S | P | V | S | N |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 33 | 938 | TOPO_DOM | Cytoplasmic (Potential). | lost | | 69 | 113 | DOMAIN | LEM. | lost | | 259 | 259 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 266 | 266 | CONFLICT | P -> Q (in Ref. 3; AAH43157). | might get lost (downstream of altered splice site) | | 268 | 268 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 411 | 440 | REPEAT | ANK. | might get lost (downstream of altered splice site) | | 481 | 481 | CONFLICT | L -> V (in Ref. 3; AAH43157). | might get lost (downstream of altered splice site) | | 487 | 487 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 488 | 488 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 496 | 496 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 512 | 512 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 528 | 528 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 647 | 647 | CONFLICT | S -> N (in Ref. 3; AAH43157). | might get lost (downstream of altered splice site) | | 662 | 662 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 662 | 662 | CONFLICT | S -> I (in Ref. 1; BAG52720). | might get lost (downstream of altered splice site) | | 680 | 680 | CONFLICT | E -> K (in Ref. 1; BAG52720). | might get lost (downstream of altered splice site) | | 863 | 863 | CONFLICT | L -> P (in Ref. 1; BAG51259). | might get lost (downstream of altered splice site) | | 891 | 891 | CONFLICT | G -> A (in Ref. 1; BAG52720). | might get lost (downstream of altered splice site) | | 896 | 896 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 914 | 914 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 919 | 919 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 882 / 882 |
| position (AA) of stopcodon in wt / mu AA sequence | 294 / 294 |
| position of stopcodon in wt / mu cDNA | 2866 / 2866 |
| 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 | 1985 / 1985 |
| chromosome | 12 |
| strand | -1 |
| last intron/exon boundary | 2665 |
| theoretical NMD boundary in CDS | 630 |
| length of CDS | 882 |
| coding sequence (CDS) position | 224 |
cDNA position
(for ins/del: last normal base / first normal base) | 2208 |
gDNA position
(for ins/del: last normal base / first normal base) | 31886 |
chromosomal position
(for ins/del: last normal base / first normal base) | 133306589 |
| original gDNA sequence snippet | CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC |
| altered gDNA sequence snippet | CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC |
| original cDNA sequence snippet | CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC |
| altered cDNA sequence snippet | CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC |
| wildtype AA sequence | MSLEEIKNRQ NAARNNSPPT VGAFGHTRCS AFPLEQEADL IEAAEPGGPH SSRNGLCHPL
NHSRTLAGKR PKAPRGEEAH LPPVSDLTVE FDKLNLQNIG RSVSKTPDES TKTKDQILTS
RINAVERDLL EPSPADQLGN GHRRTESEMS ARIAKMSLSP SSPRHEDQLE VTREPARRLF
LFGEEPSKLD QDVLAALECA DVDPHQFPAV HRWKSAVLCY SPSDRQSWPS PAVKGRFKSQ
LPDLSGPHSY SPGRNSVAGS NPAKPGLGSP GRYSPVHGSQ LRRMARLAEL AAL* |
| mutated AA sequence | MSLEEIKNRQ NAARNNSPPT VGAFGHTRCS AFPLEQEADL IEAAEPGGPH SSRNGLCHPL
NHSRTLAGKR PKAPHGEEAH LPPVSDLTVE FDKLNLQNIG RSVSKTPDES TKTKDQILTS
RINAVERDLL EPSPADQLGN GHRRTESEMS ARIAKMSLSP SSPRHEDQLE VTREPARRLF
LFGEEPSKLD QDVLAALECA DVDPHQFPAV HRWKSAVLCY SPSDRQSWPS PAVKGRFKSQ
LPDLSGPHSY SPGRNSVAGS NPAKPGLGSP GRYSPVHGSQ LRRMARLAEL AAL* |
| speed | 1.07 s |
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