Prediction |
polymorphism |
Model: simple_aae, prob: 1 (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 CM067657)
- 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) | chr1:158324425A>GN/A
show variant in all transcripts IGV
|
HGNC symbol | CD1E |
Ensembl transcript ID | ENST00000368155 |
Genbank transcript ID | NM_001185108 |
UniProt peptide | P15812 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.317A>G cDNA.317A>G g.1172A>G |
AA changes | Q106R Score: 43 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 106 |
frameshift | no |
known variant | Reference ID: rs1065457
database | homozygous (G/G) | heterozygous | allele carriers |
1000G | 1044 | 999 | 2043 |
ExAC | 13486 | 5795 | 19281 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)
|
regulatory features | N/A |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -0.949 | 0 | | -1.691 | 0 | (flanking) | -1.601 | 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 | Acc increased | 1163 | wt: 0.62 / mu: 0.69 | wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG | atag|TTTT | Acc marginally increased | 1173 | wt: 0.6375 / mu: 0.6412 (marginal change - not scored) | wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG | ccag|ATAG | Acc marginally increased | 1176 | wt: 0.4363 / mu: 0.4711 (marginal change - not scored) | wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA | gata|GTGC | Acc marginally increased | 1171 | wt: 0.9201 / mu: 0.9705 (marginal change - not scored) | wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT | atcc|AGAT | Donor increased | 1171 | wt: 0.67 / mu: 0.99 | wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC | ATCC|agat |
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distance from splice site | 39 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 106 | S | L | F | Q | L | Y | F | H | S | F | I | Q | I | V | Q | A | S | A | G | Q | F | Q | L | E |
mutated | all conserved | | 106 | S | L | F | Q | L | Y | F | H | S | F | I | R | I | V | Q | A | S | A | G | Q | F | Q | L |
Ptroglodytes | all conserved | ENSPTRG00000001501 | 106 | S | L | F | Q | L | Y | F | H | S | F | I | R | I | V | Q | A | S | A | G | Q | F | Q | L |
Mmulatta | all conserved | ENSMMUG00000016784 | 106 | S | L | F | Q | L | Y | F | N | G | F | V | R | I | V | Q | A | S | A | G | Q | F | Q | L |
Fcatus | no homologue | | | |
Mmusculus | no homologue | | | |
Ggallus | all conserved | ENSGALG00000012494 | 101 | S | S | I | K | S | Y | V | R | D | F | S | R | L | V | Q | | | | | | | | |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 87 | 111 | HELIX | | lost | 112 | 116 | TURN | | might get lost (downstream of altered splice site) | 119 | 129 | STRAND | | might get lost (downstream of altered splice site) | 132 | 134 | STRAND | | might get lost (downstream of altered splice site) | 136 | 139 | STRAND | | might get lost (downstream of altered splice site) | 142 | 145 | STRAND | | might get lost (downstream of altered splice site) | 159 | 161 | TURN | | might get lost (downstream of altered splice site) | 163 | 174 | HELIX | | might get lost (downstream of altered splice site) | 176 | 201 | HELIX | | might get lost (downstream of altered splice site) | 191 | 301 | DOMAIN | Ig-like. | might get lost (downstream of altered splice site) | 202 | 205 | TURN | | might get lost (downstream of altered splice site) | 209 | 209 | CONFLICT | V -> A (in Ref. 3; BAG64215). | might get lost (downstream of altered splice site) | 222 | 224 | STRAND | | might get lost (downstream of altered splice site) | 228 | 230 | STRAND | | might get lost (downstream of altered splice site) | 230 | 230 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 232 | 234 | STRAND | | might get lost (downstream of altered splice site) | 236 | 238 | STRAND | | might get lost (downstream of altered splice site) | 241 | 244 | STRAND | | might get lost (downstream of altered splice site) | 248 | 248 | CONFLICT | E -> G (in Ref. 3; BAG64215). | might get lost (downstream of altered splice site) | 260 | 262 | STRAND | | might get lost (downstream of altered splice site) | 263 | 265 | TURN | | might get lost (downstream of altered splice site) | 266 | 269 | STRAND | | might get lost (downstream of altered splice site) | 271 | 273 | STRAND | | might get lost (downstream of altered splice site) | 277 | 280 | HELIX | | might get lost (downstream of altered splice site) | 285 | 285 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 285 | 288 | STRAND | | might get lost (downstream of altered splice site) | 290 | 292 | TURN | | might get lost (downstream of altered splice site) | 300 | 302 | STRAND | | might get lost (downstream of altered splice site) | 305 | 325 | TRANSMEM | Helical; (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 | 696 / 696 |
position (AA) of stopcodon in wt / mu AA sequence | 232 / 232 |
position of stopcodon in wt / mu cDNA | 696 / 696 |
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 | 1 / 1 |
chromosome | 1 |
strand | 1 |
last intron/exon boundary | 564 |
theoretical NMD boundary in CDS | 513 |
length of CDS | 696 |
coding sequence (CDS) position | 317 |
cDNA position (for ins/del: last normal base / first normal base) | 317 |
gDNA position (for ins/del: last normal base / first normal base) | 1172 |
chromosomal position (for ins/del: last normal base / first normal base) | 158324425 |
original gDNA sequence snippet | ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG |
altered gDNA sequence snippet | ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG |
original cDNA sequence snippet | ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG |
altered cDNA sequence snippet | ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG |
wildtype AA sequence | MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIQIVQA SAGQFQLELK PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV WVMWMRGGYS IFLILICLTV IVTLVILVVV DSRLKKQSPV FLMGANTQDT KNSRHQFCLA QVSWIKNRVL KKWKTRLNQL W* |
mutated AA sequence | MLLLFLLFEG LCCPGENTAA PQALQSYHLA AEEQLSFRML QTSSFANHSW AHSEGSGWLG DLQTHGWDTV LGTIRFLKPW SHGNFSKQEL KNLQSLFQLY FHSFIRIVQA SAGQFQLELK PEAWLSCGPS PGPGRLQLVC HVSGFYPKPV WVMWMRGGYS IFLILICLTV IVTLVILVVV DSRLKKQSPV FLMGANTQDT KNSRHQFCLA QVSWIKNRVL KKWKTRLNQL W* |
speed | 0.88 s |
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