Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15949 | 48070;48071;48072 | chr2:178617150;178617149;178617148 | chr2:179481877;179481876;179481875 |
| N2AB | 14308 | 43147;43148;43149 | chr2:178617150;178617149;178617148 | chr2:179481877;179481876;179481875 |
| N2A | 13381 | 40366;40367;40368 | chr2:178617150;178617149;178617148 | chr2:179481877;179481876;179481875 |
| N2B | 6884 | 20875;20876;20877 | chr2:178617150;178617149;178617148 | chr2:179481877;179481876;179481875 |
| Novex-1 | 7009 | 21250;21251;21252 | chr2:178617150;178617149;178617148 | chr2:179481877;179481876;179481875 |
| Novex-2 | 7076 | 21451;21452;21453 | chr2:178617150;178617149;178617148 | chr2:179481877;179481876;179481875 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 0.933 | N | 0.608 | 0.107 | 0.365120060079 | gnomAD-4.0.0 | 6.86919E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5505E-05 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | None | None | 0.005 | N | 0.155 | 0.034 | 0.218845423259 | gnomAD-4.0.0 | 6.86919E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01728E-07 | 0 | 0 |
| L/V | rs759304727  |
-0.662 | 0.022 | N | 0.16 | 0.056 | 0.234412748748 | gnomAD-2.1.1 | 8.34E-06 | None | None | None | None | N | None | 0 | 5.97E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs759304727 |
-0.662 | 0.022 | N | 0.16 | 0.056 | 0.234412748748 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs759304727 |
-0.662 | 0.022 | N | 0.16 | 0.056 | 0.234412748748 | gnomAD-4.0.0 | 1.24408E-06 | None | None | None | None | N | None | 0 | 3.37781E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1849 | likely_benign | 0.1389 | benign | -1.639 | Destabilizing | 0.685 | D | 0.565 | neutral | None | None | None | None | N |
| L/C | 0.4682 | ambiguous | 0.4123 | ambiguous | -0.956 | Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | N |
| L/D | 0.7076 | likely_pathogenic | 0.5441 | ambiguous | -1.124 | Destabilizing | 0.991 | D | 0.719 | prob.delet. | None | None | None | None | N |
| L/E | 0.3816 | ambiguous | 0.2641 | benign | -0.97 | Destabilizing | 0.991 | D | 0.739 | deleterious | None | None | None | None | N |
| L/F | 0.2044 | likely_benign | 0.1572 | benign | -0.808 | Destabilizing | 0.933 | D | 0.608 | neutral | N | 0.437107295 | None | None | N |
| L/G | 0.5738 | likely_pathogenic | 0.4434 | ambiguous | -2.098 | Highly Destabilizing | 0.991 | D | 0.702 | prob.delet. | None | None | None | None | N |
| L/H | 0.2714 | likely_benign | 0.2028 | benign | -1.341 | Destabilizing | 0.997 | D | 0.747 | deleterious | N | 0.439552293 | None | None | N |
| L/I | 0.0827 | likely_benign | 0.0769 | benign | -0.38 | Destabilizing | 0.005 | N | 0.155 | neutral | N | 0.422141275 | None | None | N |
| L/K | 0.3118 | likely_benign | 0.2167 | benign | -1.114 | Destabilizing | 0.974 | D | 0.733 | deleterious | None | None | None | None | N |
| L/M | 0.142 | likely_benign | 0.1224 | benign | -0.361 | Destabilizing | 0.949 | D | 0.641 | neutral | None | None | None | None | N |
| L/N | 0.4272 | ambiguous | 0.3085 | benign | -1.282 | Destabilizing | 0.991 | D | 0.732 | deleterious | None | None | None | None | N |
| L/P | 0.4128 | ambiguous | 0.251 | benign | -0.772 | Destabilizing | 0.989 | D | 0.723 | deleterious | N | 0.450851459 | None | None | N |
| L/Q | 0.1994 | likely_benign | 0.1424 | benign | -1.2 | Destabilizing | 0.991 | D | 0.748 | deleterious | None | None | None | None | N |
| L/R | 0.2431 | likely_benign | 0.1809 | benign | -0.836 | Destabilizing | 0.989 | D | 0.753 | deleterious | N | 0.437107295 | None | None | N |
| L/S | 0.2566 | likely_benign | 0.182 | benign | -1.997 | Destabilizing | 0.974 | D | 0.59 | neutral | None | None | None | None | N |
| L/T | 0.1513 | likely_benign | 0.1193 | benign | -1.7 | Destabilizing | 0.841 | D | 0.626 | neutral | None | None | None | None | N |
| L/V | 0.0843 | likely_benign | 0.0815 | benign | -0.772 | Destabilizing | 0.022 | N | 0.16 | neutral | N | 0.414231823 | None | None | N |
| L/W | 0.3906 | ambiguous | 0.2929 | benign | -1.065 | Destabilizing | 0.998 | D | 0.79 | deleterious | None | None | None | None | N |
| L/Y | 0.4841 | ambiguous | 0.3711 | ambiguous | -0.735 | Destabilizing | 0.991 | D | 0.619 | neutral | 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.