Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19006 | 57241;57242;57243 | chr2:178598601;178598600;178598599 | chr2:179463328;179463327;179463326 |
| N2AB | 17365 | 52318;52319;52320 | chr2:178598601;178598600;178598599 | chr2:179463328;179463327;179463326 |
| N2A | 16438 | 49537;49538;49539 | chr2:178598601;178598600;178598599 | chr2:179463328;179463327;179463326 |
| N2B | 9941 | 30046;30047;30048 | chr2:178598601;178598600;178598599 | chr2:179463328;179463327;179463326 |
| Novex-1 | 10066 | 30421;30422;30423 | chr2:178598601;178598600;178598599 | chr2:179463328;179463327;179463326 |
| Novex-2 | 10133 | 30622;30623;30624 | chr2:178598601;178598600;178598599 | chr2:179463328;179463327;179463326 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs747343924  |
-0.189 | 0.989 | N | 0.564 | 0.412 | None | gnomAD-2.1.1 | 8.21E-06 | None | None | None | None | N | None | 1.3031E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/A | rs747343924 |
-0.189 | 0.989 | N | 0.564 | 0.412 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/A | rs747343924 |
-0.189 | 0.989 | N | 0.564 | 0.412 | None | gnomAD-4.0.0 | 3.10847E-06 | None | None | None | None | N | None | 5.37158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60596E-05 |
| D/E | rs780515211 |
-0.751 | 0.333 | N | 0.268 | 0.122 | 0.165133752707 | gnomAD-2.1.1 | 7.27E-06 | None | None | None | None | N | None | 8.31E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs780515211 |
-0.751 | 0.333 | N | 0.268 | 0.122 | 0.165133752707 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs780515211 |
-0.751 | 0.333 | N | 0.268 | 0.122 | 0.165133752707 | gnomAD-4.0.0 | 4.97362E-06 | None | None | None | None | N | None | 2.68658E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.09085E-06 | 0 | 0 |
| D/G | rs747343924 |
-0.603 | 0.994 | N | 0.547 | 0.413 | 0.326881540566 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| D/G | rs747343924 |
-0.603 | 0.994 | N | 0.547 | 0.413 | 0.326881540566 | gnomAD-4.0.0 | 7.55246E-06 | None | None | None | None | N | None | 3.0259E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00414E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4713 | ambiguous | 0.3697 | ambiguous | -0.489 | Destabilizing | 0.989 | D | 0.564 | neutral | N | 0.461721442 | None | None | N |
| D/C | 0.8662 | likely_pathogenic | 0.8058 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/E | 0.3495 | ambiguous | 0.2949 | benign | -0.814 | Destabilizing | 0.333 | N | 0.268 | neutral | N | 0.441364812 | None | None | N |
| D/F | 0.769 | likely_pathogenic | 0.7067 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/G | 0.6936 | likely_pathogenic | 0.575 | pathogenic | -0.803 | Destabilizing | 0.994 | D | 0.547 | neutral | N | 0.514035774 | None | None | N |
| D/H | 0.6609 | likely_pathogenic | 0.5689 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.491524274 | None | None | N |
| D/I | 0.642 | likely_pathogenic | 0.5086 | ambiguous | 0.323 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| D/K | 0.873 | likely_pathogenic | 0.7893 | pathogenic | -0.434 | Destabilizing | 0.992 | D | 0.549 | neutral | None | None | None | None | N |
| D/L | 0.6939 | likely_pathogenic | 0.5953 | pathogenic | 0.323 | Stabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/M | 0.8368 | likely_pathogenic | 0.7706 | pathogenic | 0.774 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/N | 0.2769 | likely_benign | 0.2227 | benign | -0.675 | Destabilizing | 0.994 | D | 0.509 | neutral | N | 0.450581728 | None | None | N |
| D/P | 0.9905 | likely_pathogenic | 0.9855 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| D/Q | 0.7574 | likely_pathogenic | 0.6569 | pathogenic | -0.577 | Destabilizing | 0.998 | D | 0.579 | neutral | None | None | None | None | N |
| D/R | 0.889 | likely_pathogenic | 0.8224 | pathogenic | -0.454 | Destabilizing | 0.998 | D | 0.68 | prob.neutral | None | None | None | None | N |
| D/S | 0.2997 | likely_benign | 0.2294 | benign | -0.972 | Destabilizing | 0.992 | D | 0.481 | neutral | None | None | None | None | N |
| D/T | 0.4856 | ambiguous | 0.3376 | benign | -0.717 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| D/V | 0.4392 | ambiguous | 0.3205 | benign | 0.077 | Stabilizing | 0.998 | D | 0.735 | prob.delet. | N | 0.432763972 | None | None | N |
| D/W | 0.9701 | likely_pathogenic | 0.9599 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| D/Y | 0.4575 | ambiguous | 0.3749 | ambiguous | -0.402 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.480192559 | 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.