Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31471 | 94636;94637;94638 | chr2:178547114;178547113;178547112 | chr2:179411841;179411840;179411839 |
| N2AB | 29830 | 89713;89714;89715 | chr2:178547114;178547113;178547112 | chr2:179411841;179411840;179411839 |
| N2A | 28903 | 86932;86933;86934 | chr2:178547114;178547113;178547112 | chr2:179411841;179411840;179411839 |
| N2B | 22406 | 67441;67442;67443 | chr2:178547114;178547113;178547112 | chr2:179411841;179411840;179411839 |
| Novex-1 | 22531 | 67816;67817;67818 | chr2:178547114;178547113;178547112 | chr2:179411841;179411840;179411839 |
| Novex-2 | 22598 | 68017;68018;68019 | chr2:178547114;178547113;178547112 | chr2:179411841;179411840;179411839 |
| 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/I | rs759347301  |
0.044 | 0.001 | N | 0.311 | 0.164 | 0.216624796971 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs759347301 |
0.044 | 0.001 | N | 0.311 | 0.164 | 0.216624796971 | gnomAD-4.0.0 | 1.02632E-05 | None | None | None | None | N | None | 0 | 4.47227E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.04338E-04 | 6.62691E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0755 | likely_benign | 0.0748 | benign | -0.765 | Destabilizing | 0.09 | N | 0.385 | neutral | N | 0.477040398 | None | None | N |
| T/C | 0.261 | likely_benign | 0.2185 | benign | -0.491 | Destabilizing | 0.944 | D | 0.517 | neutral | None | None | None | None | N |
| T/D | 0.3394 | likely_benign | 0.3593 | ambiguous | -0.3 | Destabilizing | 0.388 | N | 0.508 | neutral | None | None | None | None | N |
| T/E | 0.3158 | likely_benign | 0.341 | ambiguous | -0.313 | Destabilizing | 0.241 | N | 0.499 | neutral | None | None | None | None | N |
| T/F | 0.2015 | likely_benign | 0.1889 | benign | -0.849 | Destabilizing | 0.69 | D | 0.615 | neutral | None | None | None | None | N |
| T/G | 0.1403 | likely_benign | 0.127 | benign | -1.012 | Destabilizing | 0.241 | N | 0.523 | neutral | None | None | None | None | N |
| T/H | 0.2508 | likely_benign | 0.2473 | benign | -1.257 | Destabilizing | 0.944 | D | 0.571 | neutral | None | None | None | None | N |
| T/I | 0.1442 | likely_benign | 0.1339 | benign | -0.202 | Destabilizing | 0.001 | N | 0.311 | neutral | N | 0.480539952 | None | None | N |
| T/K | 0.2698 | likely_benign | 0.3108 | benign | -0.867 | Destabilizing | 0.241 | N | 0.508 | neutral | None | None | None | None | N |
| T/L | 0.0797 | likely_benign | 0.075 | benign | -0.202 | Destabilizing | 0.043 | N | 0.461 | neutral | None | None | None | None | N |
| T/M | 0.0833 | likely_benign | 0.081 | benign | 0.051 | Stabilizing | 0.69 | D | 0.545 | neutral | None | None | None | None | N |
| T/N | 0.0952 | likely_benign | 0.0925 | benign | -0.757 | Destabilizing | 0.193 | N | 0.448 | neutral | N | 0.493047213 | None | None | N |
| T/P | 0.0935 | likely_benign | 0.0944 | benign | -0.357 | Destabilizing | 0.627 | D | 0.559 | neutral | N | 0.503090849 | None | None | N |
| T/Q | 0.2341 | likely_benign | 0.2398 | benign | -0.919 | Destabilizing | 0.69 | D | 0.572 | neutral | None | None | None | None | N |
| T/R | 0.2592 | likely_benign | 0.2866 | benign | -0.575 | Destabilizing | 0.69 | D | 0.567 | neutral | None | None | None | None | N |
| T/S | 0.0771 | likely_benign | 0.0751 | benign | -1.0 | Destabilizing | 0.001 | N | 0.167 | neutral | N | 0.439578088 | None | None | N |
| T/V | 0.1101 | likely_benign | 0.1072 | benign | -0.357 | Destabilizing | 0.043 | N | 0.443 | neutral | None | None | None | None | N |
| T/W | 0.5353 | ambiguous | 0.495 | ambiguous | -0.802 | Destabilizing | 0.981 | D | 0.609 | neutral | None | None | None | None | N |
| T/Y | 0.2579 | likely_benign | 0.2444 | benign | -0.585 | Destabilizing | 0.818 | D | 0.605 | 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.