Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28016 | 84271;84272;84273 | chr2:178562086;178562085;178562084 | chr2:179426813;179426812;179426811 |
| N2AB | 26375 | 79348;79349;79350 | chr2:178562086;178562085;178562084 | chr2:179426813;179426812;179426811 |
| N2A | 25448 | 76567;76568;76569 | chr2:178562086;178562085;178562084 | chr2:179426813;179426812;179426811 |
| N2B | 18951 | 57076;57077;57078 | chr2:178562086;178562085;178562084 | chr2:179426813;179426812;179426811 |
| Novex-1 | 19076 | 57451;57452;57453 | chr2:178562086;178562085;178562084 | chr2:179426813;179426812;179426811 |
| Novex-2 | 19143 | 57652;57653;57654 | chr2:178562086;178562085;178562084 | chr2:179426813;179426812;179426811 |
| 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 | rs748757133  |
0.037 | 0.983 | N | 0.639 | 0.277 | 0.55046033382 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.0749E-04 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs748757133 |
0.037 | 0.983 | N | 0.639 | 0.277 | 0.55046033382 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.861E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs748757133 |
0.037 | 0.983 | N | 0.639 | 0.277 | 0.55046033382 | gnomAD-4.0.0 | 3.09951E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11777E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | None | None | 0.967 | N | 0.567 | 0.261 | 0.393316636838 | gnomAD-4.0.0 | 6.84457E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99638E-07 | 0 | 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 | 0.0805 | likely_benign | 0.0837 | benign | -0.396 | Destabilizing | 0.63 | D | 0.503 | neutral | D | 0.529496377 | None | None | N |
| T/C | 0.4143 | ambiguous | 0.4512 | ambiguous | -0.339 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| T/D | 0.2729 | likely_benign | 0.2861 | benign | 0.593 | Stabilizing | 0.975 | D | 0.581 | neutral | None | None | None | None | N |
| T/E | 0.244 | likely_benign | 0.2499 | benign | 0.565 | Stabilizing | 0.975 | D | 0.585 | neutral | None | None | None | None | N |
| T/F | 0.1903 | likely_benign | 0.2107 | benign | -0.703 | Destabilizing | 0.987 | D | 0.653 | neutral | None | None | None | None | N |
| T/G | 0.1982 | likely_benign | 0.2131 | benign | -0.581 | Destabilizing | 0.845 | D | 0.613 | neutral | None | None | None | None | N |
| T/H | 0.2141 | likely_benign | 0.2302 | benign | -0.773 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| T/I | 0.1708 | likely_benign | 0.1772 | benign | -0.018 | Destabilizing | 0.983 | D | 0.639 | neutral | N | 0.484731732 | None | None | N |
| T/K | 0.2237 | likely_benign | 0.2335 | benign | -0.263 | Destabilizing | 0.975 | D | 0.585 | neutral | None | None | None | None | N |
| T/L | 0.0962 | likely_benign | 0.0971 | benign | -0.018 | Destabilizing | 0.916 | D | 0.612 | neutral | None | None | None | None | N |
| T/M | 0.0763 | likely_benign | 0.0758 | benign | -0.085 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| T/N | 0.088 | likely_benign | 0.0923 | benign | -0.191 | Destabilizing | 0.967 | D | 0.567 | neutral | N | 0.466447763 | None | None | N |
| T/P | 0.2827 | likely_benign | 0.2966 | benign | -0.113 | Destabilizing | 0.983 | D | 0.635 | neutral | D | 0.525997499 | None | None | N |
| T/Q | 0.2195 | likely_benign | 0.228 | benign | -0.29 | Destabilizing | 0.975 | D | 0.615 | neutral | None | None | None | None | N |
| T/R | 0.1883 | likely_benign | 0.2055 | benign | -0.092 | Destabilizing | 0.975 | D | 0.628 | neutral | None | None | None | None | N |
| T/S | 0.0958 | likely_benign | 0.1016 | benign | -0.472 | Destabilizing | 0.099 | N | 0.282 | neutral | N | 0.44345626 | None | None | N |
| T/V | 0.1349 | likely_benign | 0.1355 | benign | -0.113 | Destabilizing | 0.916 | D | 0.568 | neutral | None | None | None | None | N |
| T/W | 0.4726 | ambiguous | 0.5174 | ambiguous | -0.719 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| T/Y | 0.1994 | likely_benign | 0.2159 | benign | -0.427 | Destabilizing | 0.996 | D | 0.653 | 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.