Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23705 | 71338;71339;71340 | chr2:178575019;178575018;178575017 | chr2:179439746;179439745;179439744 |
| N2AB | 22064 | 66415;66416;66417 | chr2:178575019;178575018;178575017 | chr2:179439746;179439745;179439744 |
| N2A | 21137 | 63634;63635;63636 | chr2:178575019;178575018;178575017 | chr2:179439746;179439745;179439744 |
| N2B | 14640 | 44143;44144;44145 | chr2:178575019;178575018;178575017 | chr2:179439746;179439745;179439744 |
| Novex-1 | 14765 | 44518;44519;44520 | chr2:178575019;178575018;178575017 | chr2:179439746;179439745;179439744 |
| Novex-2 | 14832 | 44719;44720;44721 | chr2:178575019;178575018;178575017 | chr2:179439746;179439745;179439744 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs765591920  |
0.244 | 0.521 | N | 0.586 | 0.286 | 0.350307294319 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs765591920 |
0.244 | 0.521 | N | 0.586 | 0.286 | 0.350307294319 | gnomAD-4.0.0 | 4.77625E-06 | None | None | None | None | N | None | 0 | 4.57477E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0259E-05 |
| P/T | None | None | 0.028 | N | 0.251 | 0.19 | 0.12205267543 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0915 | likely_benign | 0.0887 | benign | -1.648 | Destabilizing | 0.309 | N | 0.481 | neutral | N | 0.361988804 | None | None | N |
| P/C | 0.3226 | likely_benign | 0.3042 | benign | -1.264 | Destabilizing | 0.996 | D | 0.615 | neutral | None | None | None | None | N |
| P/D | 0.4636 | ambiguous | 0.4575 | ambiguous | -1.655 | Destabilizing | 0.59 | D | 0.519 | neutral | None | None | None | None | N |
| P/E | 0.2753 | likely_benign | 0.2665 | benign | -1.472 | Destabilizing | 0.373 | N | 0.497 | neutral | None | None | None | None | N |
| P/F | 0.3033 | likely_benign | 0.3051 | benign | -0.915 | Destabilizing | 0.953 | D | 0.627 | neutral | None | None | None | None | N |
| P/G | 0.2876 | likely_benign | 0.2791 | benign | -2.152 | Highly Destabilizing | 0.543 | D | 0.518 | neutral | None | None | None | None | N |
| P/H | 0.1553 | likely_benign | 0.1468 | benign | -1.844 | Destabilizing | 0.953 | D | 0.582 | neutral | None | None | None | None | N |
| P/I | 0.1559 | likely_benign | 0.1578 | benign | -0.275 | Destabilizing | 0.91 | D | 0.617 | neutral | None | None | None | None | N |
| P/K | 0.2553 | likely_benign | 0.2482 | benign | -1.241 | Destabilizing | 0.59 | D | 0.521 | neutral | None | None | None | None | N |
| P/L | 0.1013 | likely_benign | 0.0996 | benign | -0.275 | Destabilizing | 0.521 | D | 0.586 | neutral | N | 0.364066317 | None | None | N |
| P/M | 0.2205 | likely_benign | 0.2183 | benign | -0.412 | Destabilizing | 0.953 | D | 0.576 | neutral | None | None | None | None | N |
| P/N | 0.2785 | likely_benign | 0.2689 | benign | -1.431 | Destabilizing | 0.037 | N | 0.441 | neutral | None | None | None | None | N |
| P/Q | 0.1632 | likely_benign | 0.1613 | benign | -1.305 | Destabilizing | 0.028 | N | 0.354 | neutral | N | 0.323027771 | None | None | N |
| P/R | 0.1758 | likely_benign | 0.1599 | benign | -1.118 | Destabilizing | 0.521 | D | 0.577 | neutral | N | 0.311925343 | None | None | N |
| P/S | 0.1285 | likely_benign | 0.1261 | benign | -2.118 | Highly Destabilizing | 0.034 | N | 0.215 | neutral | N | 0.28202651 | None | None | N |
| P/T | 0.0917 | likely_benign | 0.0855 | benign | -1.789 | Destabilizing | 0.028 | N | 0.251 | neutral | N | 0.254394405 | None | None | N |
| P/V | 0.1246 | likely_benign | 0.1251 | benign | -0.702 | Destabilizing | 0.59 | D | 0.545 | neutral | None | None | None | None | N |
| P/W | 0.5297 | ambiguous | 0.497 | ambiguous | -1.344 | Destabilizing | 0.996 | D | 0.663 | neutral | None | None | None | None | N |
| P/Y | 0.2744 | likely_benign | 0.2511 | benign | -0.931 | Destabilizing | 0.984 | D | 0.633 | 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.