Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22176 | 66751;66752;66753 | chr2:178581742;178581741;178581740 | chr2:179446469;179446468;179446467 |
| N2AB | 20535 | 61828;61829;61830 | chr2:178581742;178581741;178581740 | chr2:179446469;179446468;179446467 |
| N2A | 19608 | 59047;59048;59049 | chr2:178581742;178581741;178581740 | chr2:179446469;179446468;179446467 |
| N2B | 13111 | 39556;39557;39558 | chr2:178581742;178581741;178581740 | chr2:179446469;179446468;179446467 |
| Novex-1 | 13236 | 39931;39932;39933 | chr2:178581742;178581741;178581740 | chr2:179446469;179446468;179446467 |
| Novex-2 | 13303 | 40132;40133;40134 | chr2:178581742;178581741;178581740 | chr2:179446469;179446468;179446467 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs779303152  |
-0.554 | 0.667 | N | 0.749 | 0.36 | 0.675528658969 | gnomAD-2.1.1 | 3.34E-05 | None | None | None | None | N | None | 6.78E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| S/F | rs779303152 |
-0.554 | 0.667 | N | 0.749 | 0.36 | 0.675528658969 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02944E-04 | 0 | 0 |
| S/F | rs779303152 |
-0.554 | 0.667 | N | 0.749 | 0.36 | 0.675528658969 | gnomAD-4.0.0 | 5.03502E-05 | None | None | None | None | N | None | 1.33672E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.62478E-05 | 0 | 3.21357E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0996 | likely_benign | 0.0964 | benign | -0.578 | Destabilizing | 0.001 | N | 0.316 | neutral | N | 0.461343014 | None | None | N |
| S/C | 0.1076 | likely_benign | 0.1116 | benign | -0.173 | Destabilizing | 0.883 | D | 0.705 | prob.neutral | N | 0.491419413 | None | None | N |
| S/D | 0.7742 | likely_pathogenic | 0.7659 | pathogenic | -0.813 | Destabilizing | 0.272 | N | 0.565 | neutral | None | None | None | None | N |
| S/E | 0.7145 | likely_pathogenic | 0.6956 | pathogenic | -0.632 | Destabilizing | 0.272 | N | 0.57 | neutral | None | None | None | None | N |
| S/F | 0.2839 | likely_benign | 0.2557 | benign | -0.394 | Destabilizing | 0.667 | D | 0.749 | deleterious | N | 0.502522228 | None | None | N |
| S/G | 0.1426 | likely_benign | 0.1473 | benign | -0.961 | Destabilizing | 0.157 | N | 0.53 | neutral | None | None | None | None | N |
| S/H | 0.4336 | ambiguous | 0.4406 | ambiguous | -1.262 | Destabilizing | 0.968 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/I | 0.2309 | likely_benign | 0.2215 | benign | 0.391 | Stabilizing | 0.396 | N | 0.684 | prob.neutral | None | None | None | None | N |
| S/K | 0.8497 | likely_pathogenic | 0.8465 | pathogenic | 0.056 | Stabilizing | 0.272 | N | 0.58 | neutral | None | None | None | None | N |
| S/L | 0.1272 | likely_benign | 0.1238 | benign | 0.391 | Stabilizing | 0.157 | N | 0.624 | neutral | None | None | None | None | N |
| S/M | 0.2041 | likely_benign | 0.2027 | benign | 0.187 | Stabilizing | 0.909 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/N | 0.2511 | likely_benign | 0.2607 | benign | -0.506 | Destabilizing | 0.272 | N | 0.576 | neutral | None | None | None | None | N |
| S/P | 0.9765 | likely_pathogenic | 0.9795 | pathogenic | 0.102 | Stabilizing | 0.667 | D | 0.675 | prob.neutral | D | 0.525234839 | None | None | N |
| S/Q | 0.5417 | ambiguous | 0.5529 | ambiguous | -0.273 | Destabilizing | 0.726 | D | 0.613 | neutral | None | None | None | None | N |
| S/R | 0.768 | likely_pathogenic | 0.7568 | pathogenic | -0.338 | Destabilizing | 0.567 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/T | 0.1062 | likely_benign | 0.103 | benign | -0.225 | Destabilizing | None | N | 0.292 | neutral | N | 0.451432664 | None | None | N |
| S/V | 0.2512 | likely_benign | 0.2432 | benign | 0.102 | Stabilizing | 0.157 | N | 0.635 | neutral | None | None | None | None | N |
| S/W | 0.5039 | ambiguous | 0.5037 | ambiguous | -0.657 | Destabilizing | 0.968 | D | 0.784 | deleterious | None | None | None | None | N |
| S/Y | 0.2554 | likely_benign | 0.2416 | benign | -0.178 | Destabilizing | 0.667 | D | 0.757 | deleterious | N | 0.507295168 | 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.