Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2627 | 8104;8105;8106 | chr2:178771448;178771447;178771446 | chr2:179636175;179636174;179636173 |
| N2AB | 2627 | 8104;8105;8106 | chr2:178771448;178771447;178771446 | chr2:179636175;179636174;179636173 |
| N2A | 2627 | 8104;8105;8106 | chr2:178771448;178771447;178771446 | chr2:179636175;179636174;179636173 |
| N2B | 2581 | 7966;7967;7968 | chr2:178771448;178771447;178771446 | chr2:179636175;179636174;179636173 |
| Novex-1 | 2581 | 7966;7967;7968 | chr2:178771448;178771447;178771446 | chr2:179636175;179636174;179636173 |
| Novex-2 | 2581 | 7966;7967;7968 | chr2:178771448;178771447;178771446 | chr2:179636175;179636174;179636173 |
| Novex-3 | 2627 | 8104;8105;8106 | chr2:178771448;178771447;178771446 | chr2:179636175;179636174;179636173 |
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 | rs1451021817  |
-0.59 | 0.002 | N | 0.123 | 0.275 | 0.137902524267 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs1451021817 |
-0.59 | 0.002 | N | 0.123 | 0.275 | 0.137902524267 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-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 | 0.076 | likely_benign | 0.0765 | benign | -0.744 | Destabilizing | 0.002 | N | 0.123 | neutral | N | 0.450708242 | None | None | N |
| T/C | 0.3456 | ambiguous | 0.3364 | benign | -0.43 | Destabilizing | 0.995 | D | 0.475 | neutral | None | None | None | None | N |
| T/D | 0.277 | likely_benign | 0.2698 | benign | 0.133 | Stabilizing | 0.704 | D | 0.471 | neutral | None | None | None | None | N |
| T/E | 0.181 | likely_benign | 0.1706 | benign | 0.112 | Stabilizing | 0.329 | N | 0.431 | neutral | None | None | None | None | N |
| T/F | 0.1746 | likely_benign | 0.1715 | benign | -0.922 | Destabilizing | 0.944 | D | 0.501 | neutral | None | None | None | None | N |
| T/G | 0.2158 | likely_benign | 0.2195 | benign | -0.968 | Destabilizing | 0.329 | N | 0.433 | neutral | None | None | None | None | N |
| T/H | 0.176 | likely_benign | 0.1702 | benign | -1.213 | Destabilizing | 0.017 | N | 0.322 | neutral | None | None | None | None | N |
| T/I | 0.0954 | likely_benign | 0.0939 | benign | -0.252 | Destabilizing | 0.473 | N | 0.461 | neutral | N | 0.508555009 | None | None | N |
| T/K | 0.1239 | likely_benign | 0.1147 | benign | -0.61 | Destabilizing | 0.006 | N | 0.247 | neutral | N | 0.426665071 | None | None | N |
| T/L | 0.0771 | likely_benign | 0.0767 | benign | -0.252 | Destabilizing | 0.329 | N | 0.431 | neutral | None | None | None | None | N |
| T/M | 0.0813 | likely_benign | 0.0799 | benign | -0.075 | Destabilizing | 0.944 | D | 0.496 | neutral | None | None | None | None | N |
| T/N | 0.1052 | likely_benign | 0.1013 | benign | -0.459 | Destabilizing | 0.704 | D | 0.324 | neutral | None | None | None | None | N |
| T/P | 0.2613 | likely_benign | 0.2037 | benign | -0.385 | Destabilizing | 0.784 | D | 0.531 | neutral | N | 0.512009505 | None | None | N |
| T/Q | 0.1495 | likely_benign | 0.1457 | benign | -0.617 | Destabilizing | 0.085 | N | 0.215 | neutral | None | None | None | None | N |
| T/R | 0.1087 | likely_benign | 0.0991 | benign | -0.378 | Destabilizing | 0.473 | N | 0.471 | neutral | N | 0.475195076 | None | None | N |
| T/S | 0.0974 | likely_benign | 0.0992 | benign | -0.75 | Destabilizing | 0.023 | N | 0.149 | neutral | N | 0.482664071 | None | None | N |
| T/V | 0.09 | likely_benign | 0.0887 | benign | -0.385 | Destabilizing | 0.007 | N | 0.175 | neutral | None | None | None | None | N |
| T/W | 0.466 | ambiguous | 0.4444 | ambiguous | -0.861 | Destabilizing | 0.995 | D | 0.503 | neutral | None | None | None | None | N |
| T/Y | 0.2221 | likely_benign | 0.2062 | benign | -0.627 | Destabilizing | 0.893 | D | 0.529 | 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.