Prediction |
polymorphism |
Model: simple_aae, prob: 0.983423980548681 (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
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr2:165476253A>TN/A
show variant in all transcripts IGV
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HGNC symbol | GRB14 |
Ensembl transcript ID | ENST00000263915 |
Genbank transcript ID | NM_004490 |
UniProt peptide | Q14449 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.268T>A cDNA.807T>A g.2106T>A |
AA changes | F90I Score: 21 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 90 |
frameshift | no |
known variant | Reference ID: rs61748245
database | homozygous (T/T) | heterozygous | allele carriers |
1000G | 624 | 971 | 1595 |
ExAC | 24088 | -15409 | 8679 |
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 1.736 | 1 | | 1.781 | 1 | (flanking) | 0.259 | 1 | 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 marginally increased | 2096 | wt: 0.2337 / mu: 0.2384 (marginal change - not scored) | wt: AACCCTTTTCCTGAGCTATGCTGTTCTCCATTTACATCTGT mu: AACCCTTTTCCTGAGCTATGCTGTTCTCCAATTACATCTGT | atgc|TGTT | Acc increased | 2105 | wt: 0.51 / mu: 0.75 | wt: CCTGAGCTATGCTGTTCTCCATTTACATCTGTGTTGTCAGC mu: CCTGAGCTATGCTGTTCTCCAATTACATCTGTGTTGTCAGC | tcca|TTTA | Acc marginally increased | 2106 | wt: 0.8095 / mu: 0.8229 (marginal change - not scored) | wt: CTGAGCTATGCTGTTCTCCATTTACATCTGTGTTGTCAGCA mu: CTGAGCTATGCTGTTCTCCAATTACATCTGTGTTGTCAGCA | ccat|TTAC | Donor increased | 2105 | wt: 0.62 / mu: 0.76 | wt: TCTCCATTTACATCT mu: TCTCCAATTACATCT | TCCA|ttta |
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distance from splice site | 57 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | |
protein features | start (aa) | end (aa) | feature | details | | 106 | 192 | DOMAIN | Ras-associating. | might get lost (downstream of altered splice site) | 140 | 140 | MUTAGEN | K->A: Partial loss of INSR-binding. Loss of inhibition of AKT1 activation. Loss of inhibition of MAPK3 phosphorylation. Loss of NRAS-binding. | might get lost (downstream of altered splice site) | 234 | 342 | DOMAIN | PH. | might get lost (downstream of altered splice site) | 245 | 245 | MUTAGEN | E->G: 4-fold increase in PI(3,4,5)P3- binding affinity; when associated with S- 246. | might get lost (downstream of altered splice site) | 246 | 246 | MUTAGEN | Q->S: 4-fold increase in PI(3,4,5)P3- binding affinity; when associated with G- 245. | might get lost (downstream of altered splice site) | 252 | 252 | MUTAGEN | K->A: Partial loss of INSR-binding. Loss of inhibition of AKT1 activation. Loss of inhibition of MAPK3 phosphorylation. Loss of translocation to the plasma membrane upon insulin-stimulation. More than 3- fold decrease in PI(3,4,5)P3-binding affinity. | might get lost (downstream of altered splice site) | 299 | 299 | MUTAGEN | G->N: No effect on PI(3,4,5)P3-binding. | might get lost (downstream of altered splice site) | 348 | 348 | MUTAGEN | Q->A: Loss of inhibition of AKT1 activation; when associated with A-349. Loss of inhibition of MAPK3 phosphorylation; when associated with A- 349. No effect on INSR-binding; when associated with A-349. | might get lost (downstream of altered splice site) | 349 | 349 | MUTAGEN | N->A: Loss of inhibition of AKT1 activation; when associated with A-348. Loss of inhibition of MAPK3 phosphorylation; when associated with A- 348. No effect on INSR-binding; when associated with A-348. | might get lost (downstream of altered splice site) | 372 | 372 | MOD_RES | Phosphoserine (By similarity). | might get lost (downstream of altered splice site) | 377 | 380 | STRAND | | might get lost (downstream of altered splice site) | 382 | 385 | STRAND | | might get lost (downstream of altered splice site) | 392 | 407 | HELIX | | might get lost (downstream of altered splice site) | 434 | 436 | HELIX | | might get lost (downstream of altered splice site) | 439 | 535 | DOMAIN | SH2. | might get lost (downstream of altered splice site) | 446 | 454 | HELIX | | might get lost (downstream of altered splice site) | 455 | 457 | TURN | | might get lost (downstream of altered splice site) | 462 | 467 | STRAND | | might get lost (downstream of altered splice site) | 469 | 472 | STRAND | | might get lost (downstream of altered splice site) | 475 | 481 | STRAND | | might get lost (downstream of altered splice site) | 484 | 495 | STRAND | | might get lost (downstream of altered splice site) | 498 | 504 | STRAND | | might get lost (downstream of altered splice site) | 510 | 512 | STRAND | | might get lost (downstream of altered splice site) | 513 | 520 | HELIX | | might get lost (downstream of altered splice site) | 527 | 529 | STRAND | | 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 | 1623 / 1623 |
position (AA) of stopcodon in wt / mu AA sequence | 541 / 541 |
position of stopcodon in wt / mu cDNA | 2162 / 2162 |
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 | 540 / 540 |
chromosome | 2 |
strand | -1 |
last intron/exon boundary | 2016 |
theoretical NMD boundary in CDS | 1426 |
length of CDS | 1623 |
coding sequence (CDS) position | 268 |
cDNA position (for ins/del: last normal base / first normal base) | 807 |
gDNA position (for ins/del: last normal base / first normal base) | 2106 |
chromosomal position (for ins/del: last normal base / first normal base) | 165476253 |
original gDNA sequence snippet | CTGAGCTATGCTGTTCTCCATTTACATCTGTGTTGTCAGCA |
altered gDNA sequence snippet | CTGAGCTATGCTGTTCTCCAATTACATCTGTGTTGTCAGCA |
original cDNA sequence snippet | CTGAGCTATGCTGTTCTCCATTTACATCTGTGTTGTCAGCA |
altered cDNA sequence snippet | CTGAGCTATGCTGTTCTCCAATTACATCTGTGTTGTCAGCA |
wildtype AA sequence | MTTSLQDGQS AASRAAARDS PLAAQVCGAA QGRGDAHDLA PAPWLHARAL LPLPDGTRGC AADRRKKKDL DVPEMPSIPN PFPELCCSPF TSVLSADLFP KANSRKKQVI KVYSEDETSR ALDVPSDITA RDVCQLLILK NHYIDDHSWT LFEHLPHIGV ERTIEDHELV IEVLSNWGIE EENKLYFRKN YAKYEFFKNP MYFFPEHMVS FATETNGEIS PTQILQMFLS SSTYPEIHGF LHAKEQGKKS WKKIYFFLRR SGLYFSTKGT SKEPRHLQFF SEFGNSDIYV SLAGKKKHGA PTNYGFCFKP NKAGGPRDLK MLCAEEEQSR TCWVTAIRLL KYGMQLYQNY MHPYQGRSGC SSQSISPMRS ISENSLVAMD FSGQKSRVIE NPTEALSVAV EEGLAWRKKG CLRLGTHGSP TASSQSSATN MAIHRSQPWF HHKISRDEAQ RLIIQQGLVD GVFLVRDSQS NPKTFVLSMS HGQKIKHFQI IPVEDDGEMF HTLDDGHTRF TDLIQLVEFY QLNKGVLPCK LKHYCARIAL * |
mutated AA sequence | MTTSLQDGQS AASRAAARDS PLAAQVCGAA QGRGDAHDLA PAPWLHARAL LPLPDGTRGC AADRRKKKDL DVPEMPSIPN PFPELCCSPI TSVLSADLFP KANSRKKQVI KVYSEDETSR ALDVPSDITA RDVCQLLILK NHYIDDHSWT LFEHLPHIGV ERTIEDHELV IEVLSNWGIE EENKLYFRKN YAKYEFFKNP MYFFPEHMVS FATETNGEIS PTQILQMFLS SSTYPEIHGF LHAKEQGKKS WKKIYFFLRR SGLYFSTKGT SKEPRHLQFF SEFGNSDIYV SLAGKKKHGA PTNYGFCFKP NKAGGPRDLK MLCAEEEQSR TCWVTAIRLL KYGMQLYQNY MHPYQGRSGC SSQSISPMRS ISENSLVAMD FSGQKSRVIE NPTEALSVAV EEGLAWRKKG CLRLGTHGSP TASSQSSATN MAIHRSQPWF HHKISRDEAQ RLIIQQGLVD GVFLVRDSQS NPKTFVLSMS HGQKIKHFQI IPVEDDGEMF HTLDDGHTRF TDLIQLVEFY QLNKGVLPCK LKHYCARIAL * |
speed | 0.65 s |
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