Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21127 | 63604;63605;63606 | chr2:178588028;178588027;178588026 | chr2:179452755;179452754;179452753 |
| N2AB | 19486 | 58681;58682;58683 | chr2:178588028;178588027;178588026 | chr2:179452755;179452754;179452753 |
| N2A | 18559 | 55900;55901;55902 | chr2:178588028;178588027;178588026 | chr2:179452755;179452754;179452753 |
| N2B | 12062 | 36409;36410;36411 | chr2:178588028;178588027;178588026 | chr2:179452755;179452754;179452753 |
| Novex-1 | 12187 | 36784;36785;36786 | chr2:178588028;178588027;178588026 | chr2:179452755;179452754;179452753 |
| Novex-2 | 12254 | 36985;36986;36987 | chr2:178588028;178588027;178588026 | chr2:179452755;179452754;179452753 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs751590336  |
-0.467 | 0.985 | N | 0.293 | 0.303 | 0.536240654335 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| R/C | rs751590336 |
-0.467 | 0.985 | N | 0.293 | 0.303 | 0.536240654335 | gnomAD-4.0.0 | 7.52999E-06 | None | None | None | None | I | None | 0 | 2.23794E-05 | None | 3.82995E-05 | 0 | None | 0 | 0 | 8.09781E-06 | 0 | 0 |
| R/H | rs201226615 |
-1.034 | 0.004 | N | 0.133 | 0.154 | 0.158396225186 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 1.66223E-04 |
| R/H | rs201226615 |
-1.034 | 0.004 | N | 0.133 | 0.154 | 0.158396225186 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs201226615 |
-1.034 | 0.004 | N | 0.133 | 0.154 | 0.158396225186 | gnomAD-4.0.0 | 1.11597E-05 | None | None | None | None | I | None | 2.66759E-05 | 1.66783E-05 | None | 0 | 4.47908E-05 | None | 1.56333E-05 | 0 | 6.78336E-06 | 1.09832E-05 | 4.804E-05 |
| R/L | rs201226615 |
None | 0.001 | N | 0.127 | 0.232 | 0.388010793773 | gnomAD-4.0.0 | 2.05363E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79953E-06 | 0 | 1.65739E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2498 | likely_benign | 0.294 | benign | 0.126 | Stabilizing | 0.114 | N | 0.241 | neutral | None | None | None | None | I |
| R/C | 0.1404 | likely_benign | 0.1707 | benign | -0.173 | Destabilizing | 0.985 | D | 0.293 | neutral | N | 0.476114891 | None | None | I |
| R/D | 0.4215 | ambiguous | 0.4863 | ambiguous | -0.195 | Destabilizing | 0.418 | N | 0.361 | neutral | None | None | None | None | I |
| R/E | 0.25 | likely_benign | 0.2887 | benign | -0.113 | Destabilizing | 0.228 | N | 0.167 | neutral | None | None | None | None | I |
| R/F | 0.4204 | ambiguous | 0.4986 | ambiguous | -0.031 | Destabilizing | 0.418 | N | 0.352 | neutral | None | None | None | None | I |
| R/G | 0.1409 | likely_benign | 0.1685 | benign | -0.081 | Destabilizing | 0.362 | N | 0.271 | neutral | N | 0.418664098 | None | None | I |
| R/H | 0.0995 | likely_benign | 0.111 | benign | -0.623 | Destabilizing | 0.004 | N | 0.133 | neutral | N | 0.480635277 | None | None | I |
| R/I | 0.2255 | likely_benign | 0.2696 | benign | 0.641 | Stabilizing | 0.129 | N | 0.249 | neutral | None | None | None | None | I |
| R/K | 0.1054 | likely_benign | 0.1111 | benign | -0.035 | Destabilizing | 0.228 | N | 0.193 | neutral | None | None | None | None | I |
| R/L | 0.168 | likely_benign | 0.2085 | benign | 0.641 | Stabilizing | 0.001 | N | 0.127 | neutral | N | 0.438807297 | None | None | I |
| R/M | 0.2314 | likely_benign | 0.2707 | benign | 0.021 | Stabilizing | 0.027 | N | 0.202 | neutral | None | None | None | None | I |
| R/N | 0.3431 | ambiguous | 0.3956 | ambiguous | 0.023 | Stabilizing | 0.264 | N | 0.172 | neutral | None | None | None | None | I |
| R/P | 0.3635 | ambiguous | 0.4347 | ambiguous | 0.49 | Stabilizing | 0.895 | D | 0.385 | neutral | N | 0.491332273 | None | None | I |
| R/Q | 0.0914 | likely_benign | 0.0988 | benign | 0.02 | Stabilizing | 0.418 | N | 0.216 | neutral | None | None | None | None | I |
| R/S | 0.293 | likely_benign | 0.3396 | benign | -0.2 | Destabilizing | 0.362 | N | 0.262 | neutral | N | 0.431649251 | None | None | I |
| R/T | 0.1712 | likely_benign | 0.2001 | benign | 0.02 | Stabilizing | 0.375 | N | 0.261 | neutral | None | None | None | None | I |
| R/V | 0.2666 | likely_benign | 0.312 | benign | 0.49 | Stabilizing | 0.129 | N | 0.263 | neutral | None | None | None | None | I |
| R/W | 0.1687 | likely_benign | 0.2053 | benign | -0.141 | Destabilizing | 0.983 | D | 0.28 | neutral | None | None | None | None | I |
| R/Y | 0.3072 | likely_benign | 0.3613 | ambiguous | 0.271 | Stabilizing | 0.264 | N | 0.357 | 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.