Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9557 | 28894;28895;28896 | chr2:178709650;178709649;178709648 | chr2:179574377;179574376;179574375 |
| N2AB | 9240 | 27943;27944;27945 | chr2:178709650;178709649;178709648 | chr2:179574377;179574376;179574375 |
| N2A | 8313 | 25162;25163;25164 | chr2:178709650;178709649;178709648 | chr2:179574377;179574376;179574375 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | None | None | 0.147 | 0.145 | 0.197625483188 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | rs1560553033  |
None | 0.055 | None | 0.437 | 0.121 | 0.342865806769 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| G/R | rs1560553033 |
None | 0.055 | None | 0.437 | 0.121 | 0.342865806769 | gnomAD-4.0.0 | 3.42091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5978E-06 | 0 | 1.65645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0856 | likely_benign | 0.0787 | benign | -0.85 | Destabilizing | 0.005 | N | 0.272 | neutral | None | None | None | None | N |
| G/C | 0.1503 | likely_benign | 0.1469 | benign | -1.074 | Destabilizing | 0.612 | D | 0.465 | neutral | None | None | None | None | N |
| G/D | 0.1411 | likely_benign | 0.119 | benign | -1.488 | Destabilizing | None | N | 0.147 | neutral | None | None | None | None | N |
| G/E | 0.1355 | likely_benign | 0.1221 | benign | -1.601 | Destabilizing | None | N | 0.117 | neutral | None | None | None | None | N |
| G/F | 0.4043 | ambiguous | 0.3484 | ambiguous | -1.43 | Destabilizing | 0.356 | N | 0.478 | neutral | None | None | None | None | N |
| G/H | 0.2323 | likely_benign | 0.2055 | benign | -1.249 | Destabilizing | 0.001 | N | 0.29 | neutral | None | None | None | None | N |
| G/I | 0.2011 | likely_benign | 0.18 | benign | -0.689 | Destabilizing | 0.214 | N | 0.467 | neutral | None | None | None | None | N |
| G/K | 0.2235 | likely_benign | 0.197 | benign | -1.318 | Destabilizing | 0.016 | N | 0.428 | neutral | None | None | None | None | N |
| G/L | 0.2537 | likely_benign | 0.2286 | benign | -0.689 | Destabilizing | 0.072 | N | 0.454 | neutral | None | None | None | None | N |
| G/M | 0.3173 | likely_benign | 0.2845 | benign | -0.463 | Destabilizing | 0.628 | D | 0.473 | neutral | None | None | None | None | N |
| G/N | 0.1515 | likely_benign | 0.1394 | benign | -0.998 | Destabilizing | 0.016 | N | 0.309 | neutral | None | None | None | None | N |
| G/P | 0.8721 | likely_pathogenic | 0.8473 | pathogenic | -0.705 | Destabilizing | 0.072 | N | 0.445 | neutral | None | None | None | None | N |
| G/Q | 0.1864 | likely_benign | 0.1669 | benign | -1.303 | Destabilizing | 0.001 | N | 0.145 | neutral | None | None | None | None | N |
| G/R | 0.1491 | likely_benign | 0.1282 | benign | -0.824 | Destabilizing | 0.055 | N | 0.437 | neutral | None | None | None | None | N |
| G/S | 0.0638 | likely_benign | 0.0604 | benign | -1.173 | Destabilizing | None | N | 0.107 | neutral | None | None | None | None | N |
| G/T | 0.097 | likely_benign | 0.093 | benign | -1.223 | Destabilizing | 0.016 | N | 0.438 | neutral | None | None | None | None | N |
| G/V | 0.129 | likely_benign | 0.119 | benign | -0.705 | Destabilizing | 0.055 | N | 0.448 | neutral | None | None | None | None | N |
| G/W | 0.3615 | ambiguous | 0.3323 | benign | -1.651 | Destabilizing | 0.864 | D | 0.463 | neutral | None | None | None | None | N |
| G/Y | 0.3356 | likely_benign | 0.2841 | benign | -1.297 | Destabilizing | 0.214 | N | 0.47 | 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.