Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5090 | 15493;15494;15495 | chr2:178734556;178734555;178734554 | chr2:179599283;179599282;179599281 |
| N2AB | 4773 | 14542;14543;14544 | chr2:178734556;178734555;178734554 | chr2:179599283;179599282;179599281 |
| N2A | 3846 | 11761;11762;11763 | chr2:178734556;178734555;178734554 | chr2:179599283;179599282;179599281 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs905162172  |
-1.021 | None | N | 0.138 | 0.086 | 0.151104730317 | gnomAD-2.1.1 | 9.55E-05 | None | None | None | None | N | None | 3.44274E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs905162172 |
-1.021 | None | N | 0.138 | 0.086 | 0.151104730317 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs905162172 |
-1.021 | None | N | 0.138 | 0.086 | 0.151104730317 | gnomAD-4.0.0 | 2.62816E-05 | None | None | None | None | N | None | 9.64878E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | 0.012 | N | 0.409 | 0.168 | 0.512021964565 | gnomAD-4.0.0 | 6.88867E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04172E-07 | 0 | 0 |
| T/K | rs750622009 |
-0.427 | 0.055 | N | 0.413 | 0.157 | 0.448000600372 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.55E-05 | None | 0 | 0 | 0 |
| T/K | rs750622009 |
-0.427 | 0.055 | N | 0.413 | 0.157 | 0.448000600372 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs750622009 |
-0.427 | 0.055 | N | 0.413 | 0.157 | 0.448000600372 | gnomAD-4.0.0 | 1.2469E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23434E-05 | None | 0 | 0 | 0 | 1.11957E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0646 | likely_benign | 0.0693 | benign | -0.778 | Destabilizing | None | N | 0.138 | neutral | N | 0.490134232 | None | None | N |
| T/C | 0.3664 | ambiguous | 0.356 | ambiguous | -0.38 | Destabilizing | None | N | 0.209 | neutral | None | None | None | None | N |
| T/D | 0.2951 | likely_benign | 0.2534 | benign | 0.207 | Stabilizing | 0.072 | N | 0.464 | neutral | None | None | None | None | N |
| T/E | 0.2466 | likely_benign | 0.2098 | benign | 0.151 | Stabilizing | 0.072 | N | 0.412 | neutral | None | None | None | None | N |
| T/F | 0.268 | likely_benign | 0.2604 | benign | -1.226 | Destabilizing | 0.356 | N | 0.509 | neutral | None | None | None | None | N |
| T/G | 0.1725 | likely_benign | 0.1513 | benign | -0.936 | Destabilizing | None | N | 0.143 | neutral | None | None | None | None | N |
| T/H | 0.2404 | likely_benign | 0.2309 | benign | -1.323 | Destabilizing | 0.628 | D | 0.434 | neutral | None | None | None | None | N |
| T/I | 0.2338 | likely_benign | 0.2094 | benign | -0.468 | Destabilizing | 0.012 | N | 0.409 | neutral | N | 0.521368594 | None | None | N |
| T/K | 0.1846 | likely_benign | 0.1676 | benign | -0.458 | Destabilizing | 0.055 | N | 0.413 | neutral | N | 0.441117998 | None | None | N |
| T/L | 0.136 | likely_benign | 0.129 | benign | -0.468 | Destabilizing | 0.016 | N | 0.357 | neutral | None | None | None | None | N |
| T/M | 0.0979 | likely_benign | 0.0975 | benign | -0.074 | Destabilizing | 0.356 | N | 0.387 | neutral | None | None | None | None | N |
| T/N | 0.103 | likely_benign | 0.0888 | benign | -0.269 | Destabilizing | 0.072 | N | 0.304 | neutral | None | None | None | None | N |
| T/P | 0.5398 | ambiguous | 0.4671 | ambiguous | -0.543 | Destabilizing | 0.055 | N | 0.485 | neutral | N | 0.521030196 | None | None | N |
| T/Q | 0.1827 | likely_benign | 0.1642 | benign | -0.511 | Destabilizing | 0.356 | N | 0.47 | neutral | None | None | None | None | N |
| T/R | 0.1512 | likely_benign | 0.1444 | benign | -0.232 | Destabilizing | 0.055 | N | 0.469 | neutral | N | 0.487425507 | None | None | N |
| T/S | 0.0798 | likely_benign | 0.0756 | benign | -0.562 | Destabilizing | None | N | 0.173 | neutral | N | 0.367363188 | None | None | N |
| T/V | 0.1555 | likely_benign | 0.1469 | benign | -0.543 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| T/W | 0.5955 | likely_pathogenic | 0.5453 | ambiguous | -1.142 | Destabilizing | 0.864 | D | 0.426 | neutral | None | None | None | None | N |
| T/Y | 0.2933 | likely_benign | 0.2672 | benign | -0.892 | Destabilizing | 0.356 | N | 0.484 | 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.