Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999992451 (classification due to TGP/ExAC,
real probability is shown anyway)
(explain) |
| Summary |
- amino acid sequence changed
- homozygous in TGP or ExAC
- known disease mutation at this position (HGMD CM1111303)
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr7:43810764G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | BLVRA |
| Ensembl transcript ID | ENST00000265523 |
| Genbank transcript ID | NM_000712 |
| UniProt peptide | P53004 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.7G>A
cDNA.83G>A
g.12486G>A |
| AA changes | A3T Score: 58 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 3 |
| frameshift | no |
| known variant | Reference ID: rs699512
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | 1722 | 668 | 2390 |
| ExAC | - | - | - |
known disease mutation at this position, please check HGMD for details (HGMD ID CM1111303)
|
| regulatory features | H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | -0.374 | 0.128 | | 0.065 | 0.095 | | (flanking) | 0.068 | 0.087 |
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 marginally increased | 12478 | wt: 0.9538 / mu: 0.9823 (marginal change - not scored) | wt: GACCAAGATGAATGC
mu: GACCAAGATGAATAC | CCAA|gatg | | Donor increased | 12486 | wt: 0.69 / mu: 0.88 | wt: TGAATGCAGAGGTGA
mu: TGAATACAGAGGTGA | AATG|caga | | Donor marginally increased | 12488 | wt: 0.9145 / mu: 0.9606 (marginal change - not scored) | wt: AATGCAGAGGTGAGT
mu: AATACAGAGGTGAGT | TGCA|gagg | | Donor marginally decreased | 12490 | wt: 0.9884 / mu: 0.9840 (marginal change - not scored) | wt: TGCAGAGGTGAGTTC
mu: TACAGAGGTGAGTTC | CAGA|ggtg |
|
| distance from splice site | 6 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 3 | | | | | | | | | | M | N | A | E | P | E | R | K | F | G | V | V | V | V | G |
| mutated | not conserved | | 3 | | | | | | | | | | M | N | T | E | P | E | R | K | F | G | V | V | V | V | G | V | G | R | A | G | S | V |
| Ptroglodytes | no homologue | | | |
| Mmulatta | not conserved | ENSMMUG00000017382 | 3 | | | | | | | | | | M | N | T | E | P | E | R | K | F | G | V | V | V | V | G | V | G | R | A | G | S | V |
| Fcatus | all identical | ENSFCAG00000012710 | 3 | | | | | | | | | | M | N | A | E | P | E | R | K | F | G | V | V | V | V | G | V | G | R | A | G | S | V |
| Mmusculus | not conserved | ENSMUSG00000001999 | 3 | | | | | | | | | | M | S | T | E | P | K | R | K | F | G | V | V | V | V | G | V | G | R | A | G | S | V |
| Ggallus | no alignment | ENSGALG00000012352 | n/a | |
| Trubripes | no homologue | | | |
| Drerio | no alignment | ENSDARG00000059857 | n/a | |
| Dmelanogaster | no homologue | | | |
| Celegans | no homologue | | | |
| Xtropicalis | no homologue | | | |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 1 | 2 | PROPEP | /FTId=PRO_0000010852. | might get lost (downstream of altered splice site) | | 9 | 14 | STRAND | | might get lost (downstream of altered splice site) | | 11 | 16 | COMPBIAS | Poly-Val. | might get lost (downstream of altered splice site) | | 15 | 20 | NP_BIND | NAD or NADP. | might get lost (downstream of altered splice site) | | 18 | 28 | HELIX | | might get lost (downstream of altered splice site) | | 33 | 36 | HELIX | | might get lost (downstream of altered splice site) | | 37 | 43 | STRAND | | might get lost (downstream of altered splice site) | | 44 | 46 | NP_BIND | NAD or NADP. | might get lost (downstream of altered splice site) | | 50 | 53 | STRAND | | might get lost (downstream of altered splice site) | | 59 | 64 | HELIX | | might get lost (downstream of altered splice site) | | 70 | 73 | STRAND | | might get lost (downstream of altered splice site) | | 77 | 80 | NP_BIND | NAD or NADP. | might get lost (downstream of altered splice site) | | 77 | 89 | HELIX | | might get lost (downstream of altered splice site) | | 93 | 98 | STRAND | | might get lost (downstream of altered splice site) | | 98 | 98 | BINDING | NAD or NADP; via carbonyl oxygen. | might get lost (downstream of altered splice site) | | 104 | 117 | HELIX | | might get lost (downstream of altered splice site) | | 121 | 121 | CONFLICT | L -> S (in Ref. 6; AAH05902). | might get lost (downstream of altered splice site) | | 121 | 124 | STRAND | | might get lost (downstream of altered splice site) | | 126 | 129 | HELIX | | might get lost (downstream of altered splice site) | | 131 | 140 | HELIX | | might get lost (downstream of altered splice site) | | 145 | 154 | STRAND | | might get lost (downstream of altered splice site) | | 154 | 155 | CONFLICT | AG -> SD (in Ref. 2; CAA63635). | might get lost (downstream of altered splice site) | | 159 | 162 | HELIX | | might get lost (downstream of altered splice site) | | 160 | 160 | CONFLICT | E -> D (in Ref. 2; CAA63635). | might get lost (downstream of altered splice site) | | 165 | 168 | HELIX | | might get lost (downstream of altered splice site) | | 170 | 180 | HELIX | | might get lost (downstream of altered splice site) | | 174 | 174 | MOD_RES | Phosphothreonine. | might get lost (downstream of altered splice site) | | 178 | 178 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 182 | 193 | STRAND | | might get lost (downstream of altered splice site) | | 198 | 207 | STRAND | | might get lost (downstream of altered splice site) | | 212 | 219 | STRAND | | might get lost (downstream of altered splice site) | | 226 | 235 | STRAND | | might get lost (downstream of altered splice site) | | 230 | 230 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 237 | 237 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | | 248 | 248 | MOD_RES | N6-acetyllysine. | might get lost (downstream of altered splice site) | | 250 | 262 | HELIX | | might get lost (downstream of altered splice site) | | 253 | 253 | MOD_RES | N6-acetyllysine. | might get lost (downstream of altered splice site) | | 268 | 290 | HELIX | | might get lost (downstream of altered splice site) | | 280 | 280 | METAL | Zinc (Potential). | might get lost (downstream of altered splice site) | | 281 | 281 | METAL | Zinc (Potential). | might get lost (downstream of altered splice site) | | 292 | 292 | METAL | Zinc (Potential). | might get lost (downstream of altered splice site) | | 293 | 293 | METAL | Zinc (Potential). | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 891 / 891 |
| position (AA) of stopcodon in wt / mu AA sequence | 297 / 297 |
| position of stopcodon in wt / mu cDNA | 967 / 967 |
| 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 | 77 / 77 |
| chromosome | 7 |
| strand | 1 |
| last intron/exon boundary | 709 |
| theoretical NMD boundary in CDS | 582 |
| length of CDS | 891 |
| coding sequence (CDS) position | 7 |
cDNA position
(for ins/del: last normal base / first normal base) | 83 |
gDNA position
(for ins/del: last normal base / first normal base) | 12486 |
chromosomal position
(for ins/del: last normal base / first normal base) | 43810764 |
| original gDNA sequence snippet | AGGAAGAGACCAAGATGAATGCAGAGGTGAGTTCTTTACAA |
| altered gDNA sequence snippet | AGGAAGAGACCAAGATGAATACAGAGGTGAGTTCTTTACAA |
| original cDNA sequence snippet | AGGAAGAGACCAAGATGAATGCAGAGCCCGAGAGGAAGTTT |
| altered cDNA sequence snippet | AGGAAGAGACCAAGATGAATACAGAGCCCGAGAGGAAGTTT |
| wildtype AA sequence | MNAEPERKFG VVVVGVGRAG SVRMRDLRNP HPSSAFLNLI GFVSRRELGS IDGVQQISLE
DALSSQEVEV AYICSESSSH EDYIRQFLNA GKHVLVEYPM TLSLAAAQEL WELAEQKGKV
LHEEHVELLM EEFAFLKKEV VGKDLLKGSL LFTAGPLEEE RFGFPAFSGI SRLTWLVSLF
GELSLVSATL EERKEDQYMK MTVCLETEKK SPLSWIEEKG PGLKRNRYLS FHFKSGSLEN
VPNVGVNKNI FLKDQNIFVQ KLLGQFSEKE LAAEKKRILH CLGLAEEIQK YCCSRK* |
| mutated AA sequence | MNTEPERKFG VVVVGVGRAG SVRMRDLRNP HPSSAFLNLI GFVSRRELGS IDGVQQISLE
DALSSQEVEV AYICSESSSH EDYIRQFLNA GKHVLVEYPM TLSLAAAQEL WELAEQKGKV
LHEEHVELLM EEFAFLKKEV VGKDLLKGSL LFTAGPLEEE RFGFPAFSGI SRLTWLVSLF
GELSLVSATL EERKEDQYMK MTVCLETEKK SPLSWIEEKG PGLKRNRYLS FHFKSGSLEN
VPNVGVNKNI FLKDQNIFVQ KLLGQFSEKE LAAEKKRILH CLGLAEEIQK YCCSRK* |
| speed | 0.50 s |
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