Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26466 | 79621;79622;79623 | chr2:178566736;178566735;178566734 | chr2:179431463;179431462;179431461 |
| N2AB | 24825 | 74698;74699;74700 | chr2:178566736;178566735;178566734 | chr2:179431463;179431462;179431461 |
| N2A | 23898 | 71917;71918;71919 | chr2:178566736;178566735;178566734 | chr2:179431463;179431462;179431461 |
| N2B | 17401 | 52426;52427;52428 | chr2:178566736;178566735;178566734 | chr2:179431463;179431462;179431461 |
| Novex-1 | 17526 | 52801;52802;52803 | chr2:178566736;178566735;178566734 | chr2:179431463;179431462;179431461 |
| Novex-2 | 17593 | 53002;53003;53004 | chr2:178566736;178566735;178566734 | chr2:179431463;179431462;179431461 |
| 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 | rs762829887  |
-0.197 | 0.014 | N | 0.302 | 0.129 | 0.274366138417 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/G | rs762829887 |
-0.197 | 0.014 | N | 0.302 | 0.129 | 0.274366138417 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs762829887 |
-0.197 | 0.014 | N | 0.302 | 0.129 | 0.274366138417 | gnomAD-4.0.0 | 8.67826E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10199E-05 | 0 | 1.60154E-05 |
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 | 0.5633 | ambiguous | 0.6169 | pathogenic | -0.854 | Destabilizing | 0.998 | D | 0.386 | neutral | None | None | None | None | I |
| A/D | 0.625 | likely_pathogenic | 0.6909 | pathogenic | -0.543 | Destabilizing | 0.89 | D | 0.533 | neutral | N | 0.465772924 | None | None | I |
| A/E | 0.4815 | ambiguous | 0.5499 | ambiguous | -0.699 | Destabilizing | 0.043 | N | 0.362 | neutral | None | None | None | None | I |
| A/F | 0.4719 | ambiguous | 0.5186 | ambiguous | -0.89 | Destabilizing | 0.978 | D | 0.633 | neutral | None | None | None | None | I |
| A/G | 0.2615 | likely_benign | 0.2895 | benign | -0.27 | Destabilizing | 0.014 | N | 0.302 | neutral | N | 0.469969071 | None | None | I |
| A/H | 0.6218 | likely_pathogenic | 0.6647 | pathogenic | -0.238 | Destabilizing | 0.994 | D | 0.626 | neutral | None | None | None | None | I |
| A/I | 0.2503 | likely_benign | 0.3046 | benign | -0.379 | Destabilizing | 0.754 | D | 0.442 | neutral | None | None | None | None | I |
| A/K | 0.6082 | likely_pathogenic | 0.6873 | pathogenic | -0.604 | Destabilizing | 0.915 | D | 0.417 | neutral | None | None | None | None | I |
| A/L | 0.182 | likely_benign | 0.208 | benign | -0.379 | Destabilizing | 0.754 | D | 0.465 | neutral | None | None | None | None | I |
| A/M | 0.2242 | likely_benign | 0.2644 | benign | -0.467 | Destabilizing | 0.994 | D | 0.461 | neutral | None | None | None | None | I |
| A/N | 0.3712 | ambiguous | 0.383 | ambiguous | -0.343 | Destabilizing | 0.956 | D | 0.627 | neutral | None | None | None | None | I |
| A/P | 0.6354 | likely_pathogenic | 0.7341 | pathogenic | -0.305 | Destabilizing | 0.97 | D | 0.458 | neutral | N | 0.473396701 | None | None | I |
| A/Q | 0.4337 | ambiguous | 0.4838 | ambiguous | -0.626 | Destabilizing | 0.915 | D | 0.449 | neutral | None | None | None | None | I |
| A/R | 0.5419 | ambiguous | 0.5914 | pathogenic | -0.119 | Destabilizing | 0.956 | D | 0.458 | neutral | None | None | None | None | I |
| A/S | 0.1417 | likely_benign | 0.1586 | benign | -0.527 | Destabilizing | 0.822 | D | 0.395 | neutral | N | 0.498490319 | None | None | I |
| A/T | 0.1317 | likely_benign | 0.1693 | benign | -0.606 | Destabilizing | 0.822 | D | 0.389 | neutral | N | 0.470608316 | None | None | I |
| A/V | 0.1411 | likely_benign | 0.169 | benign | -0.305 | Destabilizing | 0.058 | N | 0.213 | neutral | N | 0.495778087 | None | None | I |
| A/W | 0.8833 | likely_pathogenic | 0.9036 | pathogenic | -1.003 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | None | None | I |
| A/Y | 0.6312 | likely_pathogenic | 0.6616 | pathogenic | -0.672 | Destabilizing | 0.993 | D | 0.628 | 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.