Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28783 | 86572;86573;86574 | chr2:178559785;178559784;178559783 | chr2:179424512;179424511;179424510 |
| N2AB | 27142 | 81649;81650;81651 | chr2:178559785;178559784;178559783 | chr2:179424512;179424511;179424510 |
| N2A | 26215 | 78868;78869;78870 | chr2:178559785;178559784;178559783 | chr2:179424512;179424511;179424510 |
| N2B | 19718 | 59377;59378;59379 | chr2:178559785;178559784;178559783 | chr2:179424512;179424511;179424510 |
| Novex-1 | 19843 | 59752;59753;59754 | chr2:178559785;178559784;178559783 | chr2:179424512;179424511;179424510 |
| Novex-2 | 19910 | 59953;59954;59955 | chr2:178559785;178559784;178559783 | chr2:179424512;179424511;179424510 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs763600156  |
-0.546 | 0.001 | N | 0.213 | 0.077 | 0.324436698001 | gnomAD-2.1.1 | 8.24E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.1157E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs763600156 |
-0.546 | 0.001 | N | 0.213 | 0.077 | 0.324436698001 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs763600156 |
-0.546 | 0.001 | N | 0.213 | 0.077 | 0.324436698001 | gnomAD-4.0.0 | 1.24499E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 4.4607E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1274 | likely_benign | 0.129 | benign | -0.787 | Destabilizing | 0.055 | N | 0.477 | neutral | N | 0.419830039 | None | None | I |
| V/C | 0.6366 | likely_pathogenic | 0.6474 | pathogenic | -0.548 | Destabilizing | 0.968 | D | 0.566 | neutral | None | None | None | None | I |
| V/D | 0.4402 | ambiguous | 0.4239 | ambiguous | -0.466 | Destabilizing | 0.567 | D | 0.659 | neutral | None | None | None | None | I |
| V/E | 0.362 | ambiguous | 0.3576 | ambiguous | -0.556 | Destabilizing | 0.497 | N | 0.627 | neutral | N | 0.455441336 | None | None | I |
| V/F | 0.1814 | likely_benign | 0.1766 | benign | -0.859 | Destabilizing | 0.567 | D | 0.52 | neutral | None | None | None | None | I |
| V/G | 0.254 | likely_benign | 0.2504 | benign | -0.98 | Destabilizing | 0.497 | N | 0.638 | neutral | N | 0.514068352 | None | None | I |
| V/H | 0.5415 | ambiguous | 0.5409 | ambiguous | -0.602 | Destabilizing | 0.968 | D | 0.685 | prob.neutral | None | None | None | None | I |
| V/I | 0.0709 | likely_benign | 0.0697 | benign | -0.411 | Destabilizing | 0.001 | N | 0.213 | neutral | N | 0.487209824 | None | None | I |
| V/K | 0.3703 | ambiguous | 0.3663 | ambiguous | -0.672 | Destabilizing | 0.567 | D | 0.63 | neutral | None | None | None | None | I |
| V/L | 0.1384 | likely_benign | 0.1344 | benign | -0.411 | Destabilizing | 0.02 | N | 0.418 | neutral | N | 0.451769099 | None | None | I |
| V/M | 0.1234 | likely_benign | 0.1217 | benign | -0.336 | Destabilizing | 0.567 | D | 0.513 | neutral | None | None | None | None | I |
| V/N | 0.2501 | likely_benign | 0.2463 | benign | -0.313 | Destabilizing | 0.567 | D | 0.667 | neutral | None | None | None | None | I |
| V/P | 0.2665 | likely_benign | 0.2663 | benign | -0.5 | Destabilizing | 0.726 | D | 0.631 | neutral | None | None | None | None | I |
| V/Q | 0.3246 | likely_benign | 0.328 | benign | -0.549 | Destabilizing | 0.726 | D | 0.641 | neutral | None | None | None | None | I |
| V/R | 0.3437 | ambiguous | 0.3395 | benign | -0.155 | Destabilizing | 0.567 | D | 0.668 | neutral | None | None | None | None | I |
| V/S | 0.172 | likely_benign | 0.1744 | benign | -0.713 | Destabilizing | 0.157 | N | 0.579 | neutral | None | None | None | None | I |
| V/T | 0.14 | likely_benign | 0.1468 | benign | -0.703 | Destabilizing | 0.001 | N | 0.234 | neutral | None | None | None | None | I |
| V/W | 0.8237 | likely_pathogenic | 0.8192 | pathogenic | -0.969 | Destabilizing | 0.968 | D | 0.669 | neutral | None | None | None | None | I |
| V/Y | 0.5292 | ambiguous | 0.5176 | ambiguous | -0.677 | Destabilizing | 0.726 | D | 0.531 | 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.