Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8056 | 24391;24392;24393 | chr2:178719224;178719223;178719222 | chr2:179583951;179583950;179583949 |
| N2AB | 7739 | 23440;23441;23442 | chr2:178719224;178719223;178719222 | chr2:179583951;179583950;179583949 |
| N2A | 6812 | 20659;20660;20661 | chr2:178719224;178719223;178719222 | chr2:179583951;179583950;179583949 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/M | rs757148743  |
-0.385 | 1.0 | N | 0.685 | 0.326 | 0.632792546795 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.92E-06 | 0 |
| T/M | rs757148743 |
-0.385 | 1.0 | N | 0.685 | 0.326 | 0.632792546795 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| T/M | rs757148743 |
-0.385 | 1.0 | N | 0.685 | 0.326 | 0.632792546795 | gnomAD-4.0.0 | 6.19669E-06 | None | None | None | None | N | None | 0 | 1.66628E-05 | None | 0 | 0 | None | 1.5625E-05 | 0 | 5.08584E-06 | 1.09798E-05 | 1.60061E-05 |
| T/S | None | None | 0.775 | N | 0.53 | 0.163 | 0.185906805712 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85847E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0954 | likely_benign | 0.1194 | benign | -1.356 | Destabilizing | 0.948 | D | 0.603 | neutral | N | 0.480080701 | None | None | N |
| T/C | 0.4288 | ambiguous | 0.5041 | ambiguous | -0.78 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/D | 0.5003 | ambiguous | 0.6038 | pathogenic | -1.427 | Destabilizing | 0.998 | D | 0.636 | neutral | None | None | None | None | N |
| T/E | 0.3386 | likely_benign | 0.4036 | ambiguous | -1.179 | Destabilizing | 0.992 | D | 0.592 | neutral | None | None | None | None | N |
| T/F | 0.253 | likely_benign | 0.3289 | benign | -0.957 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/G | 0.295 | likely_benign | 0.366 | ambiguous | -1.786 | Destabilizing | 0.992 | D | 0.593 | neutral | None | None | None | None | N |
| T/H | 0.1961 | likely_benign | 0.2331 | benign | -1.67 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/I | 0.1725 | likely_benign | 0.2206 | benign | -0.199 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| T/K | 0.1523 | likely_benign | 0.1677 | benign | -0.156 | Destabilizing | 0.875 | D | 0.515 | neutral | N | 0.512757977 | None | None | N |
| T/L | 0.1208 | likely_benign | 0.1524 | benign | -0.199 | Destabilizing | 0.996 | D | 0.58 | neutral | None | None | None | None | N |
| T/M | 0.1082 | likely_benign | 0.1265 | benign | -0.32 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.476966829 | None | None | N |
| T/N | 0.1535 | likely_benign | 0.1922 | benign | -0.949 | Destabilizing | 0.998 | D | 0.571 | neutral | None | None | None | None | N |
| T/P | 0.6596 | likely_pathogenic | 0.7676 | pathogenic | -0.556 | Destabilizing | 0.998 | D | 0.656 | neutral | D | 0.526937954 | None | None | N |
| T/Q | 0.1986 | likely_benign | 0.2325 | benign | -0.665 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | N |
| T/R | 0.1059 | likely_benign | 0.124 | benign | -0.479 | Destabilizing | 0.997 | D | 0.639 | neutral | N | 0.461607597 | None | None | N |
| T/S | 0.1103 | likely_benign | 0.1241 | benign | -1.25 | Destabilizing | 0.775 | D | 0.53 | neutral | N | 0.475874457 | None | None | N |
| T/V | 0.1434 | likely_benign | 0.1777 | benign | -0.556 | Destabilizing | 0.996 | D | 0.56 | neutral | None | None | None | None | N |
| T/W | 0.6213 | likely_pathogenic | 0.6893 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2611 | likely_benign | 0.338 | benign | -0.676 | Destabilizing | 1.0 | D | 0.741 | 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.