Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27064 | 81415;81416;81417 | chr2:178564942;178564941;178564940 | chr2:179429669;179429668;179429667 |
| N2AB | 25423 | 76492;76493;76494 | chr2:178564942;178564941;178564940 | chr2:179429669;179429668;179429667 |
| N2A | 24496 | 73711;73712;73713 | chr2:178564942;178564941;178564940 | chr2:179429669;179429668;179429667 |
| N2B | 17999 | 54220;54221;54222 | chr2:178564942;178564941;178564940 | chr2:179429669;179429668;179429667 |
| Novex-1 | 18124 | 54595;54596;54597 | chr2:178564942;178564941;178564940 | chr2:179429669;179429668;179429667 |
| Novex-2 | 18191 | 54796;54797;54798 | chr2:178564942;178564941;178564940 | chr2:179429669;179429668;179429667 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs1705136548  |
None | 0.747 | N | 0.835 | 0.407 | 0.814401469089 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | rs1299204820 |
-0.423 | 0.003 | N | 0.241 | 0.031 | 0.241078983079 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/I | rs1299204820 |
-0.423 | 0.003 | N | 0.241 | 0.031 | 0.241078983079 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3738 | ambiguous | 0.3332 | benign | -1.608 | Destabilizing | 0.148 | N | 0.467 | neutral | N | 0.50285358 | None | None | N |
| V/C | 0.7482 | likely_pathogenic | 0.6967 | pathogenic | -1.089 | Destabilizing | 0.989 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/D | 0.891 | likely_pathogenic | 0.8611 | pathogenic | -2.0 | Highly Destabilizing | 0.747 | D | 0.835 | deleterious | N | 0.516237802 | None | None | N |
| V/E | 0.7246 | likely_pathogenic | 0.6815 | pathogenic | -1.768 | Destabilizing | 0.797 | D | 0.783 | deleterious | None | None | None | None | N |
| V/F | 0.3371 | likely_benign | 0.2944 | benign | -0.927 | Destabilizing | 0.747 | D | 0.731 | deleterious | N | 0.504121028 | None | None | N |
| V/G | 0.6027 | likely_pathogenic | 0.5566 | ambiguous | -2.12 | Highly Destabilizing | 0.747 | D | 0.767 | deleterious | N | 0.515984312 | None | None | N |
| V/H | 0.8761 | likely_pathogenic | 0.8469 | pathogenic | -1.72 | Destabilizing | 0.989 | D | 0.809 | deleterious | None | None | None | None | N |
| V/I | 0.074 | likely_benign | 0.0702 | benign | -0.187 | Destabilizing | 0.003 | N | 0.241 | neutral | N | 0.45637155 | None | None | N |
| V/K | 0.7362 | likely_pathogenic | 0.6806 | pathogenic | -1.335 | Destabilizing | 0.797 | D | 0.785 | deleterious | None | None | None | None | N |
| V/L | 0.2371 | likely_benign | 0.1992 | benign | -0.187 | Destabilizing | 0.056 | N | 0.39 | neutral | N | 0.466338674 | None | None | N |
| V/M | 0.1634 | likely_benign | 0.1438 | benign | -0.243 | Destabilizing | 0.797 | D | 0.601 | neutral | None | None | None | None | N |
| V/N | 0.7461 | likely_pathogenic | 0.6932 | pathogenic | -1.76 | Destabilizing | 0.797 | D | 0.847 | deleterious | None | None | None | None | N |
| V/P | 0.9626 | likely_pathogenic | 0.9477 | pathogenic | -0.634 | Destabilizing | 0.888 | D | 0.789 | deleterious | None | None | None | None | N |
| V/Q | 0.6862 | likely_pathogenic | 0.6252 | pathogenic | -1.554 | Destabilizing | 0.888 | D | 0.804 | deleterious | None | None | None | None | N |
| V/R | 0.706 | likely_pathogenic | 0.6509 | pathogenic | -1.277 | Destabilizing | 0.797 | D | 0.855 | deleterious | None | None | None | None | N |
| V/S | 0.5849 | likely_pathogenic | 0.5302 | ambiguous | -2.355 | Highly Destabilizing | 0.662 | D | 0.731 | deleterious | None | None | None | None | N |
| V/T | 0.3494 | ambiguous | 0.319 | benign | -1.965 | Destabilizing | 0.003 | N | 0.299 | neutral | None | None | None | None | N |
| V/W | 0.9501 | likely_pathogenic | 0.9342 | pathogenic | -1.369 | Destabilizing | 0.989 | D | 0.746 | deleterious | None | None | None | None | N |
| V/Y | 0.7773 | likely_pathogenic | 0.7326 | pathogenic | -0.926 | Destabilizing | 0.888 | D | 0.714 | prob.delet. | 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.