Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1469 | 4630;4631;4632 | chr2:178777779;178777778;178777777 | chr2:179642506;179642505;179642504 |
| N2AB | 1469 | 4630;4631;4632 | chr2:178777779;178777778;178777777 | chr2:179642506;179642505;179642504 |
| N2A | 1469 | 4630;4631;4632 | chr2:178777779;178777778;178777777 | chr2:179642506;179642505;179642504 |
| N2B | 1423 | 4492;4493;4494 | chr2:178777779;178777778;178777777 | chr2:179642506;179642505;179642504 |
| Novex-1 | 1423 | 4492;4493;4494 | chr2:178777779;178777778;178777777 | chr2:179642506;179642505;179642504 |
| Novex-2 | 1423 | 4492;4493;4494 | chr2:178777779;178777778;178777777 | chr2:179642506;179642505;179642504 |
| Novex-3 | 1469 | 4630;4631;4632 | chr2:178777779;178777778;178777777 | chr2:179642506;179642505;179642504 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs1421828840  |
-0.305 | None | N | 0.282 | 0.276 | 0.57165941983 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14916E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/S | rs1421828840 |
-0.305 | None | N | 0.282 | 0.276 | 0.57165941983 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | rs1421828840 |
-0.305 | None | N | 0.282 | 0.276 | 0.57165941983 | gnomAD-4.0.0 | 6.57022E-06 | None | None | None | None | I | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1077 | likely_benign | 0.1103 | benign | -0.773 | Destabilizing | None | N | 0.241 | neutral | None | None | None | None | I |
| L/C | 0.4541 | ambiguous | 0.4474 | ambiguous | -0.618 | Destabilizing | 0.356 | N | 0.434 | neutral | None | None | None | None | I |
| L/D | 0.4744 | ambiguous | 0.486 | ambiguous | -0.381 | Destabilizing | 0.072 | N | 0.507 | neutral | None | None | None | None | I |
| L/E | 0.2074 | likely_benign | 0.207 | benign | -0.478 | Destabilizing | 0.072 | N | 0.507 | neutral | None | None | None | None | I |
| L/F | 0.119 | likely_benign | 0.1264 | benign | -0.756 | Destabilizing | 0.171 | N | 0.349 | neutral | N | 0.499212953 | None | None | I |
| L/G | 0.2968 | likely_benign | 0.3088 | benign | -0.947 | Destabilizing | 0.016 | N | 0.549 | neutral | None | None | None | None | I |
| L/H | 0.1529 | likely_benign | 0.1505 | benign | -0.2 | Destabilizing | 0.628 | D | 0.465 | neutral | None | None | None | None | I |
| L/I | 0.0921 | likely_benign | 0.091 | benign | -0.432 | Destabilizing | 0.004 | N | 0.347 | neutral | N | 0.466163292 | None | None | I |
| L/K | 0.1347 | likely_benign | 0.1284 | benign | -0.46 | Destabilizing | 0.072 | N | 0.495 | neutral | None | None | None | None | I |
| L/M | 0.101 | likely_benign | 0.0978 | benign | -0.383 | Destabilizing | 0.214 | N | 0.342 | neutral | None | None | None | None | I |
| L/N | 0.2234 | likely_benign | 0.2295 | benign | -0.217 | Destabilizing | 0.072 | N | 0.521 | neutral | None | None | None | None | I |
| L/P | 0.1356 | likely_benign | 0.1428 | benign | -0.512 | Destabilizing | None | N | 0.323 | neutral | None | None | None | None | I |
| L/Q | 0.0831 | likely_benign | 0.0816 | benign | -0.487 | Destabilizing | 0.356 | N | 0.489 | neutral | None | None | None | None | I |
| L/R | 0.1098 | likely_benign | 0.1091 | benign | 0.165 | Stabilizing | 0.072 | N | 0.492 | neutral | None | None | None | None | I |
| L/S | 0.1118 | likely_benign | 0.1175 | benign | -0.671 | Destabilizing | None | N | 0.282 | neutral | N | 0.40337098 | None | None | I |
| L/T | 0.1076 | likely_benign | 0.1056 | benign | -0.663 | Destabilizing | 0.016 | N | 0.477 | neutral | None | None | None | None | I |
| L/V | 0.085 | likely_benign | 0.084 | benign | -0.512 | Destabilizing | None | N | 0.19 | neutral | N | 0.460636166 | None | None | I |
| L/W | 0.2323 | likely_benign | 0.251 | benign | -0.748 | Destabilizing | 0.864 | D | 0.481 | neutral | None | None | None | None | I |
| L/Y | 0.3044 | likely_benign | 0.3097 | benign | -0.511 | Destabilizing | 0.356 | N | 0.441 | neutral | None | None | None | None | I |
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.