Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34269 | 103030;103031;103032 | chr2:178533810;178533809;178533808 | chr2:179398537;179398536;179398535 |
| N2AB | 32628 | 98107;98108;98109 | chr2:178533810;178533809;178533808 | chr2:179398537;179398536;179398535 |
| N2A | 31701 | 95326;95327;95328 | chr2:178533810;178533809;178533808 | chr2:179398537;179398536;179398535 |
| N2B | 25204 | 75835;75836;75837 | chr2:178533810;178533809;178533808 | chr2:179398537;179398536;179398535 |
| Novex-1 | 25329 | 76210;76211;76212 | chr2:178533810;178533809;178533808 | chr2:179398537;179398536;179398535 |
| Novex-2 | 25396 | 76411;76412;76413 | chr2:178533810;178533809;178533808 | chr2:179398537;179398536;179398535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.698 | N | 0.465 | 0.394 | 0.491523185611 | 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 |
| A/P | rs1690251007  |
None | 0.99 | N | 0.654 | 0.7 | 0.655169154632 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1690251007 |
None | 0.99 | N | 0.654 | 0.7 | 0.655169154632 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | N | None | 2.41196E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6291 | likely_pathogenic | 0.6572 | pathogenic | -0.96 | Destabilizing | 0.994 | D | 0.619 | neutral | None | None | None | None | N |
| A/D | 0.924 | likely_pathogenic | 0.9547 | pathogenic | -1.093 | Destabilizing | 0.89 | D | 0.643 | neutral | N | 0.518590519 | None | None | N |
| A/E | 0.904 | likely_pathogenic | 0.9379 | pathogenic | -1.062 | Destabilizing | 0.956 | D | 0.655 | neutral | None | None | None | None | N |
| A/F | 0.8408 | likely_pathogenic | 0.9214 | pathogenic | -0.826 | Destabilizing | 0.956 | D | 0.637 | neutral | None | None | None | None | N |
| A/G | 0.3231 | likely_benign | 0.3821 | ambiguous | -1.223 | Destabilizing | 0.698 | D | 0.465 | neutral | N | 0.497621606 | None | None | N |
| A/H | 0.9388 | likely_pathogenic | 0.965 | pathogenic | -1.461 | Destabilizing | 0.994 | D | 0.605 | neutral | None | None | None | None | N |
| A/I | 0.5406 | ambiguous | 0.6516 | pathogenic | -0.118 | Destabilizing | 0.787 | D | 0.627 | neutral | None | None | None | None | N |
| A/K | 0.9466 | likely_pathogenic | 0.971 | pathogenic | -1.101 | Destabilizing | 0.956 | D | 0.657 | neutral | None | None | None | None | N |
| A/L | 0.5774 | likely_pathogenic | 0.7043 | pathogenic | -0.118 | Destabilizing | 0.754 | D | 0.542 | neutral | None | None | None | None | N |
| A/M | 0.6373 | likely_pathogenic | 0.7648 | pathogenic | -0.198 | Destabilizing | 0.988 | D | 0.604 | neutral | None | None | None | None | N |
| A/N | 0.8798 | likely_pathogenic | 0.9226 | pathogenic | -0.921 | Destabilizing | 0.043 | N | 0.452 | neutral | None | None | None | None | N |
| A/P | 0.9756 | likely_pathogenic | 0.9815 | pathogenic | -0.332 | Destabilizing | 0.99 | D | 0.654 | neutral | N | 0.51158908 | None | None | N |
| A/Q | 0.8829 | likely_pathogenic | 0.9211 | pathogenic | -0.97 | Destabilizing | 0.978 | D | 0.631 | neutral | None | None | None | None | N |
| A/R | 0.8908 | likely_pathogenic | 0.9286 | pathogenic | -0.939 | Destabilizing | 0.956 | D | 0.653 | neutral | None | None | None | None | N |
| A/S | 0.2029 | likely_benign | 0.2292 | benign | -1.369 | Destabilizing | 0.698 | D | 0.488 | neutral | D | 0.534081051 | None | None | N |
| A/T | 0.2031 | likely_benign | 0.2567 | benign | -1.225 | Destabilizing | 0.822 | D | 0.543 | neutral | N | 0.518303522 | None | None | N |
| A/V | 0.2612 | likely_benign | 0.3293 | benign | -0.332 | Destabilizing | 0.032 | N | 0.362 | neutral | N | 0.431889685 | None | None | N |
| A/W | 0.9844 | likely_pathogenic | 0.9932 | pathogenic | -1.27 | Destabilizing | 0.998 | D | 0.607 | neutral | None | None | None | None | N |
| A/Y | 0.9354 | likely_pathogenic | 0.9678 | pathogenic | -0.808 | Destabilizing | 0.978 | D | 0.635 | 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.