Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28832 | 86719;86720;86721 | chr2:178559638;178559637;178559636 | chr2:179424365;179424364;179424363 |
| N2AB | 27191 | 81796;81797;81798 | chr2:178559638;178559637;178559636 | chr2:179424365;179424364;179424363 |
| N2A | 26264 | 79015;79016;79017 | chr2:178559638;178559637;178559636 | chr2:179424365;179424364;179424363 |
| N2B | 19767 | 59524;59525;59526 | chr2:178559638;178559637;178559636 | chr2:179424365;179424364;179424363 |
| Novex-1 | 19892 | 59899;59900;59901 | chr2:178559638;178559637;178559636 | chr2:179424365;179424364;179424363 |
| Novex-2 | 19959 | 60100;60101;60102 | chr2:178559638;178559637;178559636 | chr2:179424365;179424364;179424363 |
| 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/G | rs2154158012  |
None | None | N | 0.123 | 0.138 | 0.110078149338 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs2154158012 |
None | None | N | 0.123 | 0.138 | 0.110078149338 | gnomAD-4.0.0 | 2.02957E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40981E-06 | 0 | 0 |
| S/N | rs747031060 |
-0.006 | None | N | 0.124 | 0.107 | 0.152612264143 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/N | rs747031060 |
-0.006 | None | N | 0.124 | 0.107 | 0.152612264143 | gnomAD-4.0.0 | 1.59145E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 0 |
| S/T | rs747031060 |
-0.029 | 0.012 | N | 0.351 | 0.116 | 0.16115917748 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/T | rs747031060 |
-0.029 | 0.012 | N | 0.351 | 0.116 | 0.16115917748 | gnomAD-4.0.0 | 1.59145E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-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 | 0.0888 | likely_benign | 0.0864 | benign | -0.233 | Destabilizing | 0.007 | N | 0.26 | neutral | None | None | None | None | I |
| S/C | 0.0875 | likely_benign | 0.0875 | benign | -0.317 | Destabilizing | 0.828 | D | 0.523 | neutral | N | 0.487903258 | None | None | I |
| S/D | 0.2467 | likely_benign | 0.2274 | benign | -0.005 | Destabilizing | 0.016 | N | 0.334 | neutral | None | None | None | None | I |
| S/E | 0.4281 | ambiguous | 0.3992 | ambiguous | -0.113 | Destabilizing | 0.038 | N | 0.323 | neutral | None | None | None | None | I |
| S/F | 0.3451 | ambiguous | 0.321 | benign | -0.916 | Destabilizing | 0.628 | D | 0.582 | neutral | None | None | None | None | I |
| S/G | 0.0582 | likely_benign | 0.0587 | benign | -0.305 | Destabilizing | None | N | 0.123 | neutral | N | 0.26108917 | None | None | I |
| S/H | 0.1788 | likely_benign | 0.17 | benign | -0.748 | Destabilizing | 0.214 | N | 0.528 | neutral | None | None | None | None | I |
| S/I | 0.2688 | likely_benign | 0.2503 | benign | -0.177 | Destabilizing | 0.295 | N | 0.584 | neutral | N | 0.487729899 | None | None | I |
| S/K | 0.3776 | ambiguous | 0.3557 | ambiguous | -0.472 | Destabilizing | 0.038 | N | 0.327 | neutral | None | None | None | None | I |
| S/L | 0.1739 | likely_benign | 0.1608 | benign | -0.177 | Destabilizing | 0.072 | N | 0.521 | neutral | None | None | None | None | I |
| S/M | 0.2549 | likely_benign | 0.2302 | benign | -0.046 | Destabilizing | 0.628 | D | 0.528 | neutral | None | None | None | None | I |
| S/N | 0.0673 | likely_benign | 0.0654 | benign | -0.197 | Destabilizing | None | N | 0.124 | neutral | N | 0.449595586 | None | None | I |
| S/P | 0.701 | likely_pathogenic | 0.6142 | pathogenic | -0.169 | Destabilizing | 0.136 | N | 0.537 | neutral | None | None | None | None | I |
| S/Q | 0.3154 | likely_benign | 0.2934 | benign | -0.449 | Destabilizing | 0.214 | N | 0.432 | neutral | None | None | None | None | I |
| S/R | 0.3368 | likely_benign | 0.3196 | benign | -0.225 | Destabilizing | 0.055 | N | 0.523 | neutral | N | 0.468450705 | None | None | I |
| S/T | 0.0971 | likely_benign | 0.0921 | benign | -0.29 | Destabilizing | 0.012 | N | 0.351 | neutral | N | 0.457233634 | None | None | I |
| S/V | 0.2606 | likely_benign | 0.2386 | benign | -0.169 | Destabilizing | 0.136 | N | 0.57 | neutral | None | None | None | None | I |
| S/W | 0.5188 | ambiguous | 0.4815 | ambiguous | -0.973 | Destabilizing | 0.864 | D | 0.586 | neutral | None | None | None | None | I |
| S/Y | 0.1997 | likely_benign | 0.1878 | benign | -0.673 | Destabilizing | 0.628 | D | 0.583 | 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.