Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3118 | 9577;9578;9579 | chr2:178767878;178767877;178767876 | chr2:179632605;179632604;179632603 |
| N2AB | 3118 | 9577;9578;9579 | chr2:178767878;178767877;178767876 | chr2:179632605;179632604;179632603 |
| N2A | 3118 | 9577;9578;9579 | chr2:178767878;178767877;178767876 | chr2:179632605;179632604;179632603 |
| N2B | 3072 | 9439;9440;9441 | chr2:178767878;178767877;178767876 | chr2:179632605;179632604;179632603 |
| Novex-1 | 3072 | 9439;9440;9441 | chr2:178767878;178767877;178767876 | chr2:179632605;179632604;179632603 |
| Novex-2 | 3072 | 9439;9440;9441 | chr2:178767878;178767877;178767876 | chr2:179632605;179632604;179632603 |
| Novex-3 | 3118 | 9577;9578;9579 | chr2:178767878;178767877;178767876 | chr2:179632605;179632604;179632603 |
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 | rs879133990  |
-0.805 | 0.939 | N | 0.518 | 0.219 | 0.384252928164 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs879133990 |
-0.805 | 0.939 | N | 0.518 | 0.219 | 0.384252928164 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs879133990 |
-0.805 | 0.939 | N | 0.518 | 0.219 | 0.384252928164 | gnomAD-4.0.0 | 3.04477E-06 | None | None | None | None | N | None | 1.74752E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40983E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0732 | likely_benign | 0.1135 | benign | -0.577 | Destabilizing | 0.164 | N | 0.307 | neutral | N | 0.345779299 | None | None | N |
| S/C | 0.1542 | likely_benign | 0.3028 | benign | -0.553 | Destabilizing | 0.994 | D | 0.381 | neutral | N | 0.37275366 | None | None | N |
| S/D | 0.5931 | likely_pathogenic | 0.794 | pathogenic | -0.621 | Destabilizing | 0.742 | D | 0.285 | neutral | None | None | None | None | N |
| S/E | 0.6894 | likely_pathogenic | 0.884 | pathogenic | -0.62 | Destabilizing | 0.742 | D | 0.3 | neutral | None | None | None | None | N |
| S/F | 0.2271 | likely_benign | 0.4157 | ambiguous | -0.714 | Destabilizing | 0.939 | D | 0.518 | neutral | N | 0.37275366 | None | None | N |
| S/G | 0.1547 | likely_benign | 0.1961 | benign | -0.83 | Destabilizing | 0.543 | D | 0.302 | neutral | None | None | None | None | N |
| S/H | 0.4814 | ambiguous | 0.6951 | pathogenic | -1.359 | Destabilizing | 0.984 | D | 0.391 | neutral | None | None | None | None | N |
| S/I | 0.2003 | likely_benign | 0.4911 | ambiguous | -0.013 | Destabilizing | 0.59 | D | 0.479 | neutral | None | None | None | None | N |
| S/K | 0.8506 | likely_pathogenic | 0.9604 | pathogenic | -0.843 | Destabilizing | 0.373 | N | 0.301 | neutral | None | None | None | None | N |
| S/L | 0.1251 | likely_benign | 0.2178 | benign | -0.013 | Destabilizing | 0.373 | N | 0.423 | neutral | None | None | None | None | N |
| S/M | 0.1904 | likely_benign | 0.3537 | ambiguous | 0.231 | Stabilizing | 0.206 | N | 0.315 | neutral | None | None | None | None | N |
| S/N | 0.1819 | likely_benign | 0.2725 | benign | -0.856 | Destabilizing | 0.742 | D | 0.318 | neutral | None | None | None | None | N |
| S/P | 0.8145 | likely_pathogenic | 0.934 | pathogenic | -0.167 | Destabilizing | 0.939 | D | 0.423 | neutral | N | 0.346067557 | None | None | N |
| S/Q | 0.6109 | likely_pathogenic | 0.8103 | pathogenic | -1.015 | Destabilizing | 0.91 | D | 0.375 | neutral | None | None | None | None | N |
| S/R | 0.8032 | likely_pathogenic | 0.9322 | pathogenic | -0.719 | Destabilizing | 0.009 | N | 0.211 | neutral | None | None | None | None | N |
| S/T | 0.0952 | likely_benign | 0.1485 | benign | -0.802 | Destabilizing | 0.001 | N | 0.069 | neutral | N | 0.35506796 | None | None | N |
| S/V | 0.1519 | likely_benign | 0.377 | ambiguous | -0.167 | Destabilizing | 0.59 | D | 0.448 | neutral | None | None | None | None | N |
| S/W | 0.5091 | ambiguous | 0.7118 | pathogenic | -0.736 | Destabilizing | 0.996 | D | 0.499 | neutral | None | None | None | None | N |
| S/Y | 0.2377 | likely_benign | 0.4129 | ambiguous | -0.461 | Destabilizing | 0.979 | D | 0.511 | neutral | N | 0.351020562 | 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.