Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18081 | 54466;54467;54468 | chr2:178604848;178604847;178604846 | chr2:179469575;179469574;179469573 |
| N2AB | 16440 | 49543;49544;49545 | chr2:178604848;178604847;178604846 | chr2:179469575;179469574;179469573 |
| N2A | 15513 | 46762;46763;46764 | chr2:178604848;178604847;178604846 | chr2:179469575;179469574;179469573 |
| N2B | 9016 | 27271;27272;27273 | chr2:178604848;178604847;178604846 | chr2:179469575;179469574;179469573 |
| Novex-1 | 9141 | 27646;27647;27648 | chr2:178604848;178604847;178604846 | chr2:179469575;179469574;179469573 |
| Novex-2 | 9208 | 27847;27848;27849 | chr2:178604848;178604847;178604846 | chr2:179469575;179469574;179469573 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | 1.0 | N | 0.825 | 0.497 | 0.689175263246 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| S/T | None | None | 0.999 | N | 0.485 | 0.369 | 0.379707525713 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2634 | likely_benign | 0.2391 | benign | -0.814 | Destabilizing | 0.997 | D | 0.455 | neutral | N | 0.47729163 | None | None | N |
| S/C | 0.3224 | likely_benign | 0.2879 | benign | -0.467 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.496765465 | None | None | N |
| S/D | 0.953 | likely_pathogenic | 0.9353 | pathogenic | -1.244 | Destabilizing | 0.999 | D | 0.604 | neutral | None | None | None | None | N |
| S/E | 0.9542 | likely_pathogenic | 0.9452 | pathogenic | -1.071 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| S/F | 0.7412 | likely_pathogenic | 0.6616 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.491739035 | None | None | N |
| S/G | 0.3723 | ambiguous | 0.3175 | benign | -1.193 | Destabilizing | 0.999 | D | 0.487 | neutral | None | None | None | None | N |
| S/H | 0.785 | likely_pathogenic | 0.7319 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| S/I | 0.8121 | likely_pathogenic | 0.7679 | pathogenic | 0.146 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| S/K | 0.98 | likely_pathogenic | 0.9717 | pathogenic | -0.374 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| S/L | 0.6421 | likely_pathogenic | 0.5696 | pathogenic | 0.146 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| S/M | 0.6083 | likely_pathogenic | 0.5605 | ambiguous | 0.074 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| S/N | 0.5887 | likely_pathogenic | 0.5134 | ambiguous | -0.92 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| S/P | 0.9978 | likely_pathogenic | 0.9968 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.532555901 | None | None | N |
| S/Q | 0.8909 | likely_pathogenic | 0.8753 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| S/R | 0.9679 | likely_pathogenic | 0.9546 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| S/T | 0.288 | likely_benign | 0.2636 | benign | -0.627 | Destabilizing | 0.999 | D | 0.485 | neutral | N | 0.509904965 | None | None | N |
| S/V | 0.7408 | likely_pathogenic | 0.7065 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| S/W | 0.8183 | likely_pathogenic | 0.7607 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| S/Y | 0.5815 | likely_pathogenic | 0.5006 | ambiguous | -0.376 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.493687592 | 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.