Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22771 | 68536;68537;68538 | chr2:178578629;178578628;178578627 | chr2:179443356;179443355;179443354 |
| N2AB | 21130 | 63613;63614;63615 | chr2:178578629;178578628;178578627 | chr2:179443356;179443355;179443354 |
| N2A | 20203 | 60832;60833;60834 | chr2:178578629;178578628;178578627 | chr2:179443356;179443355;179443354 |
| N2B | 13706 | 41341;41342;41343 | chr2:178578629;178578628;178578627 | chr2:179443356;179443355;179443354 |
| Novex-1 | 13831 | 41716;41717;41718 | chr2:178578629;178578628;178578627 | chr2:179443356;179443355;179443354 |
| Novex-2 | 13898 | 41917;41918;41919 | chr2:178578629;178578628;178578627 | chr2:179443356;179443355;179443354 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1286938486  |
None | 1.0 | N | 0.841 | 0.541 | 0.42828666871 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs1286938486 |
None | 1.0 | N | 0.841 | 0.541 | 0.42828666871 | gnomAD-4.0.0 | 6.42513E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19935E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7719 | likely_pathogenic | 0.7771 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.523199561 | None | None | I |
| G/C | 0.9374 | likely_pathogenic | 0.9417 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.550965054 | None | None | I |
| G/D | 0.9796 | likely_pathogenic | 0.9821 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.514703638 | None | None | I |
| G/E | 0.9895 | likely_pathogenic | 0.9876 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/F | 0.995 | likely_pathogenic | 0.994 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/H | 0.9902 | likely_pathogenic | 0.99 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.9934 | likely_pathogenic | 0.9931 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/K | 0.9907 | likely_pathogenic | 0.9891 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9896 | likely_pathogenic | 0.9896 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9941 | likely_pathogenic | 0.9935 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/N | 0.9682 | likely_pathogenic | 0.9697 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/P | 0.9966 | likely_pathogenic | 0.997 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/Q | 0.986 | likely_pathogenic | 0.9838 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/R | 0.968 | likely_pathogenic | 0.963 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.502613317 | None | None | I |
| G/S | 0.7359 | likely_pathogenic | 0.7259 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.519223088 | None | None | I |
| G/T | 0.9651 | likely_pathogenic | 0.9679 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/V | 0.9834 | likely_pathogenic | 0.9833 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.521251005 | None | None | I |
| G/W | 0.9863 | likely_pathogenic | 0.983 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/Y | 0.991 | likely_pathogenic | 0.9897 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.787 | deleterious | 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.