Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2737 | 8434;8435;8436 | chr2:178770583;178770582;178770581 | chr2:179635310;179635309;179635308 |
| N2AB | 2737 | 8434;8435;8436 | chr2:178770583;178770582;178770581 | chr2:179635310;179635309;179635308 |
| N2A | 2737 | 8434;8435;8436 | chr2:178770583;178770582;178770581 | chr2:179635310;179635309;179635308 |
| N2B | 2691 | 8296;8297;8298 | chr2:178770583;178770582;178770581 | chr2:179635310;179635309;179635308 |
| Novex-1 | 2691 | 8296;8297;8298 | chr2:178770583;178770582;178770581 | chr2:179635310;179635309;179635308 |
| Novex-2 | 2691 | 8296;8297;8298 | chr2:178770583;178770582;178770581 | chr2:179635310;179635309;179635308 |
| Novex-3 | 2737 | 8434;8435;8436 | chr2:178770583;178770582;178770581 | chr2:179635310;179635309;179635308 |
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 | rs2091316811  |
None | 1.0 | D | 0.783 | 0.556 | 0.811776346281 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| G/V | rs1308651047 |
0.974 | 1.0 | D | 0.812 | 0.552 | 0.884275959959 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1308651047 |
0.974 | 1.0 | D | 0.812 | 0.552 | 0.884275959959 | gnomAD-4.0.0 | 3.181E-06 | None | None | None | None | N | None | 0 | 4.57289E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2458 | likely_benign | 0.2844 | benign | -0.259 | Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.558511834 | None | None | N |
| G/C | 0.5153 | ambiguous | 0.6186 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.643698177 | None | None | N |
| G/D | 0.1839 | likely_benign | 0.2069 | benign | -0.639 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.504576033 | None | None | N |
| G/E | 0.2722 | likely_benign | 0.3273 | benign | -0.759 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/F | 0.8345 | likely_pathogenic | 0.8744 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/H | 0.6497 | likely_pathogenic | 0.6999 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/I | 0.627 | likely_pathogenic | 0.7217 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/K | 0.7092 | likely_pathogenic | 0.7582 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/L | 0.7602 | likely_pathogenic | 0.7999 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/M | 0.7443 | likely_pathogenic | 0.7859 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/N | 0.326 | likely_benign | 0.3367 | benign | -0.609 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/P | 0.9084 | likely_pathogenic | 0.9376 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/Q | 0.5895 | likely_pathogenic | 0.6429 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/R | 0.634 | likely_pathogenic | 0.6959 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.575582185 | None | None | N |
| G/S | 0.1781 | likely_benign | 0.1996 | benign | -0.749 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.496289398 | None | None | N |
| G/T | 0.3489 | ambiguous | 0.4095 | ambiguous | -0.793 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/V | 0.4472 | ambiguous | 0.5374 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.559052901 | None | None | N |
| G/W | 0.691 | likely_pathogenic | 0.7626 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/Y | 0.6455 | likely_pathogenic | 0.7206 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.807 | 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.