Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7986 | 24181;24182;24183 | chr2:178719434;178719433;178719432 | chr2:179584161;179584160;179584159 |
| N2AB | 7669 | 23230;23231;23232 | chr2:178719434;178719433;178719432 | chr2:179584161;179584160;179584159 |
| N2A | 6742 | 20449;20450;20451 | chr2:178719434;178719433;178719432 | chr2:179584161;179584160;179584159 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs528627735  |
-0.915 | 0.999 | N | 0.673 | 0.384 | 0.707210613629 | gnomAD-2.1.1 | 8.45E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.55093E-04 | None | 4.66E-05 | 0 | 0 |
| S/F | rs528627735 |
-0.915 | 0.999 | N | 0.673 | 0.384 | 0.707210613629 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| S/F | rs528627735 |
-0.915 | 0.999 | N | 0.673 | 0.384 | 0.707210613629 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/F | rs528627735 |
-0.915 | 0.999 | N | 0.673 | 0.384 | 0.707210613629 | gnomAD-4.0.0 | 3.84437E-05 | None | None | None | None | N | None | 1.33444E-05 | 0 | None | 0 | 0 | None | 1.56318E-05 | 0 | 2.54446E-06 | 6.04236E-04 | 3.20277E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0803 | likely_benign | 0.0847 | benign | -0.514 | Destabilizing | 0.973 | D | 0.345 | neutral | D | 0.52413063 | None | None | N |
| S/C | 0.1062 | likely_benign | 0.1176 | benign | -0.371 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.498925647 | None | None | N |
| S/D | 0.4567 | ambiguous | 0.5089 | ambiguous | 0.665 | Stabilizing | 0.996 | D | 0.49 | neutral | None | None | None | None | N |
| S/E | 0.5019 | ambiguous | 0.5368 | ambiguous | 0.626 | Stabilizing | 0.996 | D | 0.494 | neutral | None | None | None | None | N |
| S/F | 0.1225 | likely_benign | 0.1316 | benign | -0.911 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.519322243 | None | None | N |
| S/G | 0.1238 | likely_benign | 0.1434 | benign | -0.692 | Destabilizing | 0.996 | D | 0.405 | neutral | None | None | None | None | N |
| S/H | 0.2464 | likely_benign | 0.2488 | benign | -1.045 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| S/I | 0.1448 | likely_benign | 0.1605 | benign | -0.163 | Destabilizing | 0.998 | D | 0.669 | neutral | None | None | None | None | N |
| S/K | 0.5204 | ambiguous | 0.5412 | ambiguous | -0.255 | Destabilizing | 0.996 | D | 0.487 | neutral | None | None | None | None | N |
| S/L | 0.0905 | likely_benign | 0.1057 | benign | -0.163 | Destabilizing | 0.992 | D | 0.503 | neutral | None | None | None | None | N |
| S/M | 0.1913 | likely_benign | 0.2175 | benign | -0.106 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| S/N | 0.1723 | likely_benign | 0.1982 | benign | -0.143 | Destabilizing | 0.996 | D | 0.478 | neutral | None | None | None | None | N |
| S/P | 0.8413 | likely_pathogenic | 0.8911 | pathogenic | -0.248 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.502039519 | None | None | N |
| S/Q | 0.4027 | ambiguous | 0.4283 | ambiguous | -0.274 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| S/R | 0.3907 | ambiguous | 0.4037 | ambiguous | -0.164 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| S/T | 0.0795 | likely_benign | 0.0816 | benign | -0.276 | Destabilizing | 0.543 | D | 0.261 | neutral | N | 0.484169519 | None | None | N |
| S/V | 0.1379 | likely_benign | 0.1475 | benign | -0.248 | Destabilizing | 0.998 | D | 0.571 | neutral | None | None | None | None | N |
| S/W | 0.2755 | likely_benign | 0.2973 | benign | -0.883 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/Y | 0.1224 | likely_benign | 0.1349 | benign | -0.589 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | D | 0.52517078 | 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.