Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9626 | 29101;29102;29103 | chr2:178707691;178707690;178707689 | chr2:179572418;179572417;179572416 |
| N2AB | 9309 | 28150;28151;28152 | chr2:178707691;178707690;178707689 | chr2:179572418;179572417;179572416 |
| N2A | 8382 | 25369;25370;25371 | chr2:178707691;178707690;178707689 | chr2:179572418;179572417;179572416 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs397517530  |
-0.295 | 0.001 | None | 0.231 | 0.204 | None | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | N | None | 0 | 1.13231E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.79E-06 | 0 |
| A/D | rs397517530 |
-0.295 | 0.001 | None | 0.231 | 0.204 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | rs397517530 |
-0.295 | 0.001 | None | 0.231 | 0.204 | None | gnomAD-4.0.0 | 4.33751E-05 | None | None | None | None | N | None | 1.33465E-05 | 1.33373E-04 | None | 0 | 0 | None | 0 | 0 | 5.08533E-05 | 0 | 1.60087E-05 |
| A/V | None | None | 0.492 | None | 0.415 | 0.151 | 0.204665344411 | gnomAD-4.0.0 | 6.84169E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99421E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7625 | likely_pathogenic | 0.6456 | pathogenic | -0.756 | Destabilizing | 0.981 | D | 0.441 | neutral | None | None | None | None | N |
| A/D | 0.3343 | likely_benign | 0.2233 | benign | -0.444 | Destabilizing | 0.001 | N | 0.231 | neutral | None | None | None | None | N |
| A/E | 0.4324 | ambiguous | 0.2788 | benign | -0.596 | Destabilizing | 0.241 | N | 0.419 | neutral | None | None | None | None | N |
| A/F | 0.5093 | ambiguous | 0.3836 | ambiguous | -0.812 | Destabilizing | 0.932 | D | 0.533 | neutral | None | None | None | None | N |
| A/G | 0.107 | likely_benign | 0.0874 | benign | -0.162 | Destabilizing | 0.001 | N | 0.103 | neutral | None | None | None | None | N |
| A/H | 0.7009 | likely_pathogenic | 0.5654 | pathogenic | -0.199 | Destabilizing | 0.981 | D | 0.513 | neutral | None | None | None | None | N |
| A/I | 0.6251 | likely_pathogenic | 0.4584 | ambiguous | -0.286 | Destabilizing | 0.818 | D | 0.457 | neutral | None | None | None | None | N |
| A/K | 0.7482 | likely_pathogenic | 0.5601 | ambiguous | -0.545 | Destabilizing | 0.388 | N | 0.395 | neutral | None | None | None | None | N |
| A/L | 0.3274 | likely_benign | 0.2485 | benign | -0.286 | Destabilizing | 0.563 | D | 0.395 | neutral | None | None | None | None | N |
| A/M | 0.4048 | ambiguous | 0.3044 | benign | -0.469 | Destabilizing | 0.981 | D | 0.462 | neutral | None | None | None | None | N |
| A/N | 0.267 | likely_benign | 0.2038 | benign | -0.211 | Destabilizing | 0.388 | N | 0.47 | neutral | None | None | None | None | N |
| A/P | 0.8051 | likely_pathogenic | 0.6258 | pathogenic | -0.21 | Destabilizing | 0.773 | D | 0.427 | neutral | None | None | None | None | N |
| A/Q | 0.486 | ambiguous | 0.3788 | ambiguous | -0.472 | Destabilizing | 0.818 | D | 0.457 | neutral | None | None | None | None | N |
| A/R | 0.661 | likely_pathogenic | 0.4893 | ambiguous | -0.121 | Destabilizing | 0.818 | D | 0.457 | neutral | None | None | None | None | N |
| A/S | 0.0935 | likely_benign | 0.0853 | benign | -0.391 | Destabilizing | 0.09 | N | 0.463 | neutral | None | None | None | None | N |
| A/T | 0.1806 | likely_benign | 0.1233 | benign | -0.469 | Destabilizing | 0.324 | N | 0.399 | neutral | None | None | None | None | N |
| A/V | 0.2907 | likely_benign | 0.1967 | benign | -0.21 | Destabilizing | 0.492 | N | 0.415 | neutral | None | None | None | None | N |
| A/W | 0.8813 | likely_pathogenic | 0.7931 | pathogenic | -0.945 | Destabilizing | 0.981 | D | 0.626 | neutral | None | None | None | None | N |
| A/Y | 0.6252 | likely_pathogenic | 0.5173 | ambiguous | -0.607 | Destabilizing | 0.932 | D | 0.525 | neutral | 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.