Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14311 | 43156;43157;43158 | chr2:178633428;178633427;178633426 | chr2:179498155;179498154;179498153 |
| N2AB | 12670 | 38233;38234;38235 | chr2:178633428;178633427;178633426 | chr2:179498155;179498154;179498153 |
| N2A | 11743 | 35452;35453;35454 | chr2:178633428;178633427;178633426 | chr2:179498155;179498154;179498153 |
| N2B | 5246 | 15961;15962;15963 | chr2:178633428;178633427;178633426 | chr2:179498155;179498154;179498153 |
| Novex-1 | 5371 | 16336;16337;16338 | chr2:178633428;178633427;178633426 | chr2:179498155;179498154;179498153 |
| Novex-2 | 5438 | 16537;16538;16539 | chr2:178633428;178633427;178633426 | chr2:179498155;179498154;179498153 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs767640666  |
-0.516 | 0.101 | N | 0.435 | 0.112 | 0.0954503805726 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/D | rs767640666 |
-0.516 | 0.101 | N | 0.435 | 0.112 | 0.0954503805726 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| N/D | rs767640666 |
-0.516 | 0.101 | N | 0.435 | 0.112 | 0.0954503805726 | gnomAD-4.0.0 | 4.95874E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.6869E-05 | 1.60185E-05 |
| N/H | rs767640666 |
None | 0.794 | N | 0.523 | 0.15 | 0.12205267543 | gnomAD-4.0.0 | 6.84396E-07 | None | None | None | None | N | None | 2.99043E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | None | None | 0.002 | N | 0.146 | 0.049 | 0.0138822411134 | gnomAD-4.0.0 | 6.84396E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9963E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.132 | likely_benign | 0.1306 | benign | -0.62 | Destabilizing | 0.004 | N | 0.256 | neutral | None | None | None | None | N |
| N/C | 0.2986 | likely_benign | 0.274 | benign | 0.234 | Stabilizing | 0.983 | D | 0.539 | neutral | None | None | None | None | N |
| N/D | 0.1131 | likely_benign | 0.1184 | benign | -0.464 | Destabilizing | 0.101 | N | 0.435 | neutral | N | 0.451374012 | None | None | N |
| N/E | 0.2574 | likely_benign | 0.2549 | benign | -0.457 | Destabilizing | 0.002 | N | 0.143 | neutral | None | None | None | None | N |
| N/F | 0.3506 | ambiguous | 0.3266 | benign | -0.756 | Destabilizing | 0.716 | D | 0.561 | neutral | None | None | None | None | N |
| N/G | 0.2472 | likely_benign | 0.2326 | benign | -0.865 | Destabilizing | 0.228 | N | 0.415 | neutral | None | None | None | None | N |
| N/H | 0.1012 | likely_benign | 0.0999 | benign | -0.847 | Destabilizing | 0.794 | D | 0.523 | neutral | N | 0.451639458 | None | None | N |
| N/I | 0.1376 | likely_benign | 0.1238 | benign | -0.041 | Destabilizing | 0.002 | N | 0.372 | neutral | N | 0.451331135 | None | None | N |
| N/K | 0.2022 | likely_benign | 0.1809 | benign | -0.107 | Destabilizing | 0.002 | N | 0.146 | neutral | N | 0.401134524 | None | None | N |
| N/L | 0.173 | likely_benign | 0.1601 | benign | -0.041 | Destabilizing | 0.129 | N | 0.491 | neutral | None | None | None | None | N |
| N/M | 0.225 | likely_benign | 0.22 | benign | 0.543 | Stabilizing | 0.716 | D | 0.555 | neutral | None | None | None | None | N |
| N/P | 0.6748 | likely_pathogenic | 0.6825 | pathogenic | -0.206 | Destabilizing | 0.593 | D | 0.608 | neutral | None | None | None | None | N |
| N/Q | 0.2557 | likely_benign | 0.2461 | benign | -0.74 | Destabilizing | 0.264 | N | 0.477 | neutral | None | None | None | None | N |
| N/R | 0.2458 | likely_benign | 0.2276 | benign | -0.005 | Destabilizing | 0.264 | N | 0.409 | neutral | None | None | None | None | N |
| N/S | 0.0779 | likely_benign | 0.0751 | benign | -0.481 | Destabilizing | 0.101 | N | 0.367 | neutral | N | 0.44893882 | None | None | N |
| N/T | 0.0908 | likely_benign | 0.0856 | benign | -0.315 | Destabilizing | 0.003 | N | 0.147 | neutral | N | 0.414973365 | None | None | N |
| N/V | 0.1356 | likely_benign | 0.1307 | benign | -0.206 | Destabilizing | 0.129 | N | 0.5 | neutral | None | None | None | None | N |
| N/W | 0.7085 | likely_pathogenic | 0.7054 | pathogenic | -0.6 | Destabilizing | 0.983 | D | 0.555 | neutral | None | None | None | None | N |
| N/Y | 0.1533 | likely_benign | 0.1409 | benign | -0.377 | Destabilizing | 0.921 | D | 0.557 | neutral | N | 0.448335942 | 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.