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
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr7:43810764G>AN/A
show variant in all transcripts IGV
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HGNC symbol | BLVRA |
Ensembl transcript ID | ENST00000402924 |
Genbank transcript ID | NM_001253823 |
UniProt peptide | P53004 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.7G>A cDNA.170G>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)
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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 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 increased | 12478 | wt: 0.9538 / mu: 0.9823 (marginal change - not scored) | wt: GACCAAGATGAATGC mu: GACCAAGATGAATAC | CCAA|gatg | Donor marginally decreased | 12490 | wt: 0.9884 / mu: 0.9840 (marginal change - not scored) | wt: TGCAGAGGTGAGTTC mu: TACAGAGGTGAGTTC | CAGA|ggtg |
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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 | | | |
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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) |
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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 | 1054 / 1054 |
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 | 164 / 164 |
chromosome | 7 |
strand | 1 |
last intron/exon boundary | 796 |
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) | 170 |
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 | 0.96 s |
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