Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31166 | 93721;93722;93723 | chr2:178548130;178548129;178548128 | chr2:179412857;179412856;179412855 |
| N2AB | 29525 | 88798;88799;88800 | chr2:178548130;178548129;178548128 | chr2:179412857;179412856;179412855 |
| N2A | 28598 | 86017;86018;86019 | chr2:178548130;178548129;178548128 | chr2:179412857;179412856;179412855 |
| N2B | 22101 | 66526;66527;66528 | chr2:178548130;178548129;178548128 | chr2:179412857;179412856;179412855 |
| Novex-1 | 22226 | 66901;66902;66903 | chr2:178548130;178548129;178548128 | chr2:179412857;179412856;179412855 |
| Novex-2 | 22293 | 67102;67103;67104 | chr2:178548130;178548129;178548128 | chr2:179412857;179412856;179412855 |
| 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/A | rs1409419623  |
-1.021 | 0.996 | N | 0.499 | 0.358 | 0.214338557667 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1409419623 |
-1.021 | 0.996 | N | 0.499 | 0.358 | 0.214338557667 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | 0.992 | N | 0.619 | 0.427 | 0.444807159249 | gnomAD-4.0.0 | 6.84175E-07 | None | None | None | None | N | None | 2.98793E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs767243521 |
-0.56 | 1.0 | N | 0.751 | 0.352 | 0.405700215632 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/N | rs767243521 |
-0.56 | 1.0 | N | 0.751 | 0.352 | 0.405700215632 | gnomAD-4.0.0 | 2.05253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 2.31863E-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 | 0.1085 | likely_benign | 0.121 | benign | -0.81 | Destabilizing | 0.996 | D | 0.499 | neutral | N | 0.484232942 | None | None | N |
| T/C | 0.2839 | likely_benign | 0.3183 | benign | -0.228 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/D | 0.7265 | likely_pathogenic | 0.7489 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/E | 0.713 | likely_pathogenic | 0.7328 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/F | 0.5863 | likely_pathogenic | 0.6529 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| T/G | 0.3033 | likely_benign | 0.3438 | ambiguous | -1.21 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/H | 0.5238 | ambiguous | 0.5708 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| T/I | 0.3318 | likely_benign | 0.4139 | ambiguous | 0.237 | Stabilizing | 0.992 | D | 0.619 | neutral | N | 0.462185589 | None | None | N |
| T/K | 0.5913 | likely_pathogenic | 0.6365 | pathogenic | 0.267 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/L | 0.2236 | likely_benign | 0.2742 | benign | 0.237 | Stabilizing | 0.994 | D | 0.489 | neutral | None | None | None | None | N |
| T/M | 0.1651 | likely_benign | 0.2019 | benign | 0.089 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/N | 0.2561 | likely_benign | 0.3066 | benign | -0.38 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.480347275 | None | None | N |
| T/P | 0.4485 | ambiguous | 0.4811 | ambiguous | -0.081 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.497447382 | None | None | N |
| T/Q | 0.4947 | ambiguous | 0.5455 | ambiguous | -0.15 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/R | 0.502 | ambiguous | 0.5376 | ambiguous | -0.012 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/S | 0.1299 | likely_benign | 0.1456 | benign | -0.74 | Destabilizing | 0.998 | D | 0.518 | neutral | N | 0.464644317 | None | None | N |
| T/V | 0.1932 | likely_benign | 0.2319 | benign | -0.081 | Destabilizing | 0.813 | D | 0.372 | neutral | None | None | None | None | N |
| T/W | 0.8736 | likely_pathogenic | 0.8948 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| T/Y | 0.6498 | likely_pathogenic | 0.7177 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.801 | deleterious | 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.