Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30911 | 92956;92957;92958 | chr2:178548895;178548894;178548893 | chr2:179413622;179413621;179413620 |
| N2AB | 29270 | 88033;88034;88035 | chr2:178548895;178548894;178548893 | chr2:179413622;179413621;179413620 |
| N2A | 28343 | 85252;85253;85254 | chr2:178548895;178548894;178548893 | chr2:179413622;179413621;179413620 |
| N2B | 21846 | 65761;65762;65763 | chr2:178548895;178548894;178548893 | chr2:179413622;179413621;179413620 |
| Novex-1 | 21971 | 66136;66137;66138 | chr2:178548895;178548894;178548893 | chr2:179413622;179413621;179413620 |
| Novex-2 | 22038 | 66337;66338;66339 | chr2:178548895;178548894;178548893 | chr2:179413622;179413621;179413620 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1258281031  |
0.032 | 0.09 | N | 0.469 | 0.289 | 0.281381271821 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.3E-05 | 0 | 0 |
| T/I | rs1258281031 |
0.032 | 0.09 | N | 0.469 | 0.289 | 0.281381271821 | gnomAD-4.0.0 | 4.77386E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 5.6527E-05 | 0 | 0 | 0 | 0 |
| T/N | rs1258281031 |
None | 0.047 | N | 0.253 | 0.317 | 0.267755039894 | gnomAD-4.0.0 | 1.90954E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 3.32889E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | None | N | 0.111 | 0.069 | 0.107399877778 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.75482E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.064 | likely_benign | 0.0645 | benign | -0.213 | Destabilizing | 0.001 | N | 0.101 | neutral | N | 0.473252652 | None | None | I |
| T/C | 0.2869 | likely_benign | 0.2785 | benign | -0.612 | Destabilizing | 0.482 | N | 0.298 | neutral | None | None | None | None | I |
| T/D | 0.2285 | likely_benign | 0.2292 | benign | -0.206 | Destabilizing | 0.116 | N | 0.425 | neutral | None | None | None | None | I |
| T/E | 0.1876 | likely_benign | 0.1902 | benign | -0.296 | Destabilizing | 0.026 | N | 0.367 | neutral | None | None | None | None | I |
| T/F | 0.2045 | likely_benign | 0.1977 | benign | -0.91 | Destabilizing | 0.482 | N | 0.355 | neutral | None | None | None | None | I |
| T/G | 0.14 | likely_benign | 0.1416 | benign | -0.236 | Destabilizing | 0.026 | N | 0.261 | neutral | None | None | None | None | I |
| T/H | 0.1814 | likely_benign | 0.1836 | benign | -0.319 | Destabilizing | 0.482 | N | 0.28 | neutral | None | None | None | None | I |
| T/I | 0.117 | likely_benign | 0.1126 | benign | -0.266 | Destabilizing | 0.09 | N | 0.469 | neutral | N | 0.481101345 | None | None | I |
| T/K | 0.1497 | likely_benign | 0.1555 | benign | -0.444 | Destabilizing | 0.026 | N | 0.387 | neutral | None | None | None | None | I |
| T/L | 0.0791 | likely_benign | 0.0772 | benign | -0.266 | Destabilizing | 0.051 | N | 0.331 | neutral | None | None | None | None | I |
| T/M | 0.0817 | likely_benign | 0.0817 | benign | -0.368 | Destabilizing | 0.739 | D | 0.295 | neutral | None | None | None | None | I |
| T/N | 0.0847 | likely_benign | 0.0857 | benign | -0.327 | Destabilizing | 0.047 | N | 0.253 | neutral | N | 0.469312918 | None | None | I |
| T/P | 0.0576 | likely_benign | 0.0569 | benign | -0.229 | Destabilizing | None | N | 0.107 | neutral | N | 0.391042275 | None | None | I |
| T/Q | 0.1562 | likely_benign | 0.1577 | benign | -0.494 | Destabilizing | 0.116 | N | 0.485 | neutral | None | None | None | None | I |
| T/R | 0.1478 | likely_benign | 0.155 | benign | -0.162 | Destabilizing | 0.116 | N | 0.458 | neutral | None | None | None | None | I |
| T/S | 0.0799 | likely_benign | 0.0783 | benign | -0.465 | Destabilizing | None | N | 0.111 | neutral | N | 0.407374377 | None | None | I |
| T/V | 0.1065 | likely_benign | 0.1035 | benign | -0.229 | Destabilizing | 0.051 | N | 0.264 | neutral | None | None | None | None | I |
| T/W | 0.4686 | ambiguous | 0.4666 | ambiguous | -1.023 | Destabilizing | 0.914 | D | 0.331 | neutral | None | None | None | None | I |
| T/Y | 0.2187 | likely_benign | 0.2189 | benign | -0.708 | Destabilizing | 0.482 | N | 0.358 | 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.