Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35459 | 106600;106601;106602 | chr2:178530116;178530115;178530114 | chr2:179394843;179394842;179394841 |
| N2AB | 33818 | 101677;101678;101679 | chr2:178530116;178530115;178530114 | chr2:179394843;179394842;179394841 |
| N2A | 32891 | 98896;98897;98898 | chr2:178530116;178530115;178530114 | chr2:179394843;179394842;179394841 |
| N2B | 26394 | 79405;79406;79407 | chr2:178530116;178530115;178530114 | chr2:179394843;179394842;179394841 |
| Novex-1 | 26519 | 79780;79781;79782 | chr2:178530116;178530115;178530114 | chr2:179394843;179394842;179394841 |
| Novex-2 | 26586 | 79981;79982;79983 | chr2:178530116;178530115;178530114 | chr2:179394843;179394842;179394841 |
| 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/V | rs879170800  |
None | None | N | 0.252 | 0.056 | 0.238705975628 | 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 |
| A/V | rs879170800 |
None | None | N | 0.252 | 0.056 | 0.238705975628 | gnomAD-4.0.0 | 9.32468E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46404E-05 | 1.46576E-05 | 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 | 0.6237 | likely_pathogenic | 0.6134 | pathogenic | -0.759 | Destabilizing | 0.646 | D | 0.4 | neutral | None | None | None | None | N |
| A/D | 0.1715 | likely_benign | 0.1509 | benign | -0.438 | Destabilizing | 0.025 | N | 0.399 | neutral | N | 0.460599226 | None | None | N |
| A/E | 0.1381 | likely_benign | 0.126 | benign | -0.593 | Destabilizing | 0.064 | N | 0.365 | neutral | None | None | None | None | N |
| A/F | 0.2723 | likely_benign | 0.2487 | benign | -0.867 | Destabilizing | 0.193 | N | 0.483 | neutral | None | None | None | None | N |
| A/G | 0.1475 | likely_benign | 0.1392 | benign | -0.274 | Destabilizing | 0.049 | N | 0.335 | neutral | N | 0.499947048 | None | None | N |
| A/H | 0.4266 | ambiguous | 0.4021 | ambiguous | -0.349 | Destabilizing | 0.646 | D | 0.46 | neutral | None | None | None | None | N |
| A/I | 0.1639 | likely_benign | 0.1514 | benign | -0.324 | Destabilizing | 0.012 | N | 0.353 | neutral | None | None | None | None | N |
| A/K | 0.3093 | likely_benign | 0.2837 | benign | -0.63 | Destabilizing | 0.064 | N | 0.362 | neutral | None | None | None | None | N |
| A/L | 0.1362 | likely_benign | 0.1278 | benign | -0.324 | Destabilizing | 0.014 | N | 0.336 | neutral | None | None | None | None | N |
| A/M | 0.1689 | likely_benign | 0.161 | benign | -0.406 | Destabilizing | 0.193 | N | 0.411 | neutral | None | None | None | None | N |
| A/N | 0.1627 | likely_benign | 0.1477 | benign | -0.312 | Destabilizing | 0.001 | N | 0.283 | neutral | None | None | None | None | N |
| A/P | 0.1284 | likely_benign | 0.12 | benign | -0.262 | Destabilizing | 0.268 | N | 0.4 | neutral | N | 0.390296566 | None | None | N |
| A/Q | 0.242 | likely_benign | 0.2238 | benign | -0.58 | Destabilizing | 0.326 | N | 0.423 | neutral | None | None | None | None | N |
| A/R | 0.3011 | likely_benign | 0.2834 | benign | -0.187 | Destabilizing | 0.193 | N | 0.399 | neutral | None | None | None | None | N |
| A/S | 0.0936 | likely_benign | 0.0887 | benign | -0.498 | Destabilizing | 0.011 | N | 0.403 | neutral | N | 0.460041866 | None | None | N |
| A/T | 0.0826 | likely_benign | 0.0768 | benign | -0.574 | Destabilizing | None | N | 0.116 | neutral | N | 0.450230304 | None | None | N |
| A/V | 0.0978 | likely_benign | 0.0938 | benign | -0.262 | Destabilizing | None | N | 0.252 | neutral | N | 0.440168026 | None | None | N |
| A/W | 0.6423 | likely_pathogenic | 0.6259 | pathogenic | -1.016 | Destabilizing | 0.848 | D | 0.582 | neutral | None | None | None | None | N |
| A/Y | 0.3844 | ambiguous | 0.3589 | ambiguous | -0.669 | Destabilizing | 0.326 | N | 0.483 | 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.