Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34044 | 102355;102356;102357 | chr2:178534485;178534484;178534483 | chr2:179399212;179399211;179399210 |
| N2AB | 32403 | 97432;97433;97434 | chr2:178534485;178534484;178534483 | chr2:179399212;179399211;179399210 |
| N2A | 31476 | 94651;94652;94653 | chr2:178534485;178534484;178534483 | chr2:179399212;179399211;179399210 |
| N2B | 24979 | 75160;75161;75162 | chr2:178534485;178534484;178534483 | chr2:179399212;179399211;179399210 |
| Novex-1 | 25104 | 75535;75536;75537 | chr2:178534485;178534484;178534483 | chr2:179399212;179399211;179399210 |
| Novex-2 | 25171 | 75736;75737;75738 | chr2:178534485;178534484;178534483 | chr2:179399212;179399211;179399210 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 232
- Q(SASA): 0.742
- Predicted PPI site: N
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs1690568887  |
None | None | N | None | 0.12 | 0.289847578895 | gnomAD-4.0.0 | 6.8427E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99455E-06 | 0 | 0 |
| I/S | None | None | None | N | None | 0.228 | 0.594537789615 | gnomAD-4.0.0 | 6.84277E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99459E-07 | 0 | 0 |
| I/T | rs1349271119 |
None | None | N | None | 0.185 | 0.572760530292 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | N | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| I/V | rs1690568887 |
None | None | N | None | 0.12 | 0.251116650651 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs1690568887 |
None | None | N | None | 0.12 | 0.251116650651 | gnomAD-4.0.0 | 4.33795E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93308E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2475 | likely_benign | 0.2229 | benign | -0.438 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.5681 | likely_pathogenic | 0.5476 | ambiguous | -0.426 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.6224 | likely_pathogenic | 0.5518 | ambiguous | -0.182 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.4275 | ambiguous | 0.3664 | ambiguous | -0.295 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.1898 | likely_benign | 0.1637 | benign | -0.642 | Destabilizing | None | None | None | None | N | 0.458905715 | None | None | N |
| I/G | 0.5513 | ambiguous | 0.5164 | ambiguous | -0.572 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.4386 | ambiguous | 0.3929 | ambiguous | -0.001 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.284 | likely_benign | 0.2489 | benign | -0.172 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.0606 | likely_benign | 0.0731 | benign | -0.221 | Destabilizing | None | None | None | None | N | 0.405687306 | None | None | N |
| I/M | 0.1087 | likely_benign | 0.1033 | benign | -0.218 | Destabilizing | None | None | None | None | N | 0.45297982 | None | None | N |
| I/N | 0.3057 | likely_benign | 0.2628 | benign | 0.091 | Stabilizing | None | None | None | None | N | 0.39610503 | None | None | N |
| I/P | 0.593 | likely_pathogenic | 0.5534 | ambiguous | -0.261 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.3182 | likely_benign | 0.2787 | benign | -0.162 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.2165 | likely_benign | 0.1976 | benign | 0.362 | Stabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.2999 | likely_benign | 0.2573 | benign | -0.308 | Destabilizing | None | None | None | None | N | 0.395872957 | None | None | N |
| I/T | 0.1827 | likely_benign | 0.1633 | benign | -0.316 | Destabilizing | None | None | None | None | N | 0.415672226 | None | None | N |
| I/V | 0.093 | likely_benign | 0.0941 | benign | -0.261 | Destabilizing | None | None | None | None | N | 0.419501965 | None | None | N |
| I/W | 0.6202 | likely_pathogenic | 0.5905 | pathogenic | -0.678 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.4132 | ambiguous | 0.3787 | ambiguous | -0.396 | Destabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.