Prediction |
polymorphism |
Model: simple_aae, prob: 7.52170460255001e-08 (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 CM1213373)
- protein features (might be) affected
- splice site changes
|
hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr14:77793207G>AN/A
show variant in all transcripts IGV
|
HGNC symbol | GSTZ1 |
Ensembl transcript ID | ENST00000556627 |
Genbank transcript ID | N/A |
UniProt peptide | O43708 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.94G>A cDNA.225G>A g.5981G>A |
AA changes | E32K Score: 56 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 32 |
frameshift | no |
known variant | Reference ID: rs7975
database | homozygous (A/A) | heterozygous | allele carriers |
1000G | 260 | 1040 | 1300 |
ExAC | 5124 | 22519 | 27643 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
|
regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 0.905 | 1 | | 4.572 | 1 | (flanking) | 3.783 | 0.994 | 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 | 5977 | wt: 0.32 / mu: 0.93 | wt: ATCGACTACGAGACG mu: ATCGACTACAAGACG | CGAC|tacg |
|
distance from splice site | 27 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 32 | R | I | A | L | A | L | K | G | I | D | Y | E | T | V | P | I | N | L | I | K | D | G | G | Q |
mutated | all conserved | | 32 | R | I | A | L | A | L | K | G | I | D | Y | K | T | V | P | I | N | L | I | K | D | G | G |
Ptroglodytes | all identical | ENSPTRG00000038857 | 32 | R | I | A | L | A | L | K | G | I | D | Y | E | T | V | P | I | N | L | I | K | D | G | G |
Mmulatta | all identical | ENSMMUG00000001097 | 32 | R | I | A | L | A | L | K | G | I | D | Y | E | T | V | P | I | N | L | I | K | D | G | G |
Fcatus | all identical | ENSFCAG00000011729 | 27 | R | I | A | L | A | L | K | S | I | D | Y | E | T | I | P | I | N | L | I | K | D | G | G |
Mmusculus | all identical | ENSMUSG00000021033 | 32 | R | I | A | L | A | L | K | G | I | D | Y | E | I | V | P | I | N | L | I | K | D | G | G |
Ggallus | all conserved | ENSGALG00000010432 | 36 | R | I | A | L | A | L | K | G | I | A | Y | D | Q | V | P | V | N | L | V | K | D | G | G |
Trubripes | all conserved | ENSTRUG00000018231 | 30 | R | I | A | F | A | L | K | G | V | E | F | D | Q | V | A | V | N | L | I | K | D | G | G |
Drerio | all identical | ENSDARG00000027984 | 33 | R | I | A | F | A | L | K | G | I | E | Y | E | Q | K | P | I | N | L | I | K | D | G | G |
Dmelanogaster | all conserved | FBgn0037696 | 60 | R | V | A | L | A | I | K | K | I | D | Y | D | I | K | P | T | S | L | L | KTVSGHAYTDEYREVNPMQKVPS | | | |
Celegans | all identical | D1053.1 | 32 | R | I | A | L | A | L | K | N | V | D | Y | E | Y | K | T | V | D | L | L | S | E | E | AKSKLKEINPAAKVPTFV |
Xtropicalis | all conserved | ENSXETG00000011079 | 33 | R | I | A | L | A | F | K | G | I | E | Y | D | Q | Q | V | I | N | L | V | K | D | G | G |
|
protein features | start (aa) | end (aa) | feature | details | | 4 | 87 | DOMAIN | GST N-terminal. | lost | 32 | 32 | MOD_RES | N6-acetyllysine. | lost | 32 | 35 | STRAND | | lost | 44 | 46 | HELIX | | might get lost (downstream of altered splice site) | 45 | 45 | BINDING | Glutathione. | might get lost (downstream of altered splice site) | 48 | 53 | HELIX | | might get lost (downstream of altered splice site) | 59 | 59 | BINDING | Glutathione; via amide nitrogen and carbonyl oxygen. | might get lost (downstream of altered splice site) | 61 | 64 | STRAND | | might get lost (downstream of altered splice site) | 67 | 71 | STRAND | | might get lost (downstream of altered splice site) | 71 | 72 | REGION | Glutathione binding. | might get lost (downstream of altered splice site) | 72 | 82 | HELIX | | might get lost (downstream of altered splice site) | 92 | 212 | DOMAIN | GST C-terminal. | might get lost (downstream of altered splice site) | 93 | 109 | HELIX | | might get lost (downstream of altered splice site) | 111 | 111 | BINDING | Glutathione. | might get lost (downstream of altered splice site) | 111 | 114 | HELIX | | might get lost (downstream of altered splice site) | 115 | 117 | REGION | Glutathione binding. | might get lost (downstream of altered splice site) | 116 | 122 | HELIX | | might get lost (downstream of altered splice site) | 124 | 149 | HELIX | | might get lost (downstream of altered splice site) | 150 | 156 | STRAND | | might get lost (downstream of altered splice site) | 161 | 175 | HELIX | | might get lost (downstream of altered splice site) | 184 | 194 | HELIX | | might get lost (downstream of altered splice site) | 197 | 199 | HELIX | | might get lost (downstream of altered splice site) | 200 | 202 | TURN | | might get lost (downstream of altered splice site) | 204 | 206 | HELIX | | might get lost (downstream of altered splice site) |
|
length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 570 / 570 |
position (AA) of stopcodon in wt / mu AA sequence | 190 / 190 |
position of stopcodon in wt / mu cDNA | 701 / 701 |
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 | 132 / 132 |
chromosome | 14 |
strand | 1 |
last intron/exon boundary | 575 |
theoretical NMD boundary in CDS | 393 |
length of CDS | 570 |
coding sequence (CDS) position | 94 |
cDNA position (for ins/del: last normal base / first normal base) | 225 |
gDNA position (for ins/del: last normal base / first normal base) | 5981 |
chromosomal position (for ins/del: last normal base / first normal base) | 77793207 |
original gDNA sequence snippet | CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC |
altered gDNA sequence snippet | CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC |
original cDNA sequence snippet | CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC |
altered cDNA sequence snippet | CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC |
wildtype AA sequence | MQAGKPILYS YFRSSCSWRV RIALALKGID YETVPINLIK DGGQQLAIIE YLEEMRPTPR LLPQDPKKRA SVRMISDLIA GGIQPLQNLS VLKQVGEEMQ LTWAQNAITC GFNALEQILQ STAGIYCVGD EVTMADLCLV PQVANAERFK VDLTPYPTIS SINKRLLVLE AFQVSHPCRQ PDTPTELRA* |
mutated AA sequence | MQAGKPILYS YFRSSCSWRV RIALALKGID YKTVPINLIK DGGQQLAIIE YLEEMRPTPR LLPQDPKKRA SVRMISDLIA GGIQPLQNLS VLKQVGEEMQ LTWAQNAITC GFNALEQILQ STAGIYCVGD EVTMADLCLV PQVANAERFK VDLTPYPTIS SINKRLLVLE AFQVSHPCRQ PDTPTELRA* |
speed | 0.20 s |
|
|