Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17944 | 54055;54056;54057 | chr2:178605465;178605464;178605463 | chr2:179470192;179470191;179470190 |
| N2AB | 16303 | 49132;49133;49134 | chr2:178605465;178605464;178605463 | chr2:179470192;179470191;179470190 |
| N2A | 15376 | 46351;46352;46353 | chr2:178605465;178605464;178605463 | chr2:179470192;179470191;179470190 |
| N2B | 8879 | 26860;26861;26862 | chr2:178605465;178605464;178605463 | chr2:179470192;179470191;179470190 |
| Novex-1 | 9004 | 27235;27236;27237 | chr2:178605465;178605464;178605463 | chr2:179470192;179470191;179470190 |
| Novex-2 | 9071 | 27436;27437;27438 | chr2:178605465;178605464;178605463 | chr2:179470192;179470191;179470190 |
| 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/S | rs1242126329  |
-0.911 | 1.0 | D | 0.838 | 0.806 | 0.479133204078 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/S | rs1242126329 |
-0.911 | 1.0 | D | 0.838 | 0.806 | 0.479133204078 | gnomAD-4.0.0 | 1.59684E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86875E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.739 | likely_pathogenic | 0.6202 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.558264842 | None | None | I |
| G/C | 0.9112 | likely_pathogenic | 0.8225 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.559532289 | None | None | I |
| G/D | 0.9356 | likely_pathogenic | 0.866 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.523524362 | None | None | I |
| G/E | 0.966 | likely_pathogenic | 0.9211 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/F | 0.9881 | likely_pathogenic | 0.9747 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/H | 0.9773 | likely_pathogenic | 0.9475 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/I | 0.9866 | likely_pathogenic | 0.9725 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/K | 0.9777 | likely_pathogenic | 0.9455 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | I |
| G/L | 0.9758 | likely_pathogenic | 0.9546 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/M | 0.9847 | likely_pathogenic | 0.9674 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/N | 0.9441 | likely_pathogenic | 0.8884 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9966 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/Q | 0.957 | likely_pathogenic | 0.9052 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/R | 0.9383 | likely_pathogenic | 0.8682 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.529057771 | None | None | I |
| G/S | 0.6589 | likely_pathogenic | 0.4783 | ambiguous | -0.94 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.557757863 | None | None | I |
| G/T | 0.9208 | likely_pathogenic | 0.8383 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/V | 0.9739 | likely_pathogenic | 0.9454 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.54083215 | None | None | I |
| G/W | 0.973 | likely_pathogenic | 0.9498 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/Y | 0.9806 | likely_pathogenic | 0.9565 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.899 | 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.