Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26958 | 81097;81098;81099 | chr2:178565260;178565259;178565258 | chr2:179429987;179429986;179429985 |
| N2AB | 25317 | 76174;76175;76176 | chr2:178565260;178565259;178565258 | chr2:179429987;179429986;179429985 |
| N2A | 24390 | 73393;73394;73395 | chr2:178565260;178565259;178565258 | chr2:179429987;179429986;179429985 |
| N2B | 17893 | 53902;53903;53904 | chr2:178565260;178565259;178565258 | chr2:179429987;179429986;179429985 |
| Novex-1 | 18018 | 54277;54278;54279 | chr2:178565260;178565259;178565258 | chr2:179429987;179429986;179429985 |
| Novex-2 | 18085 | 54478;54479;54480 | chr2:178565260;178565259;178565258 | chr2:179429987;179429986;179429985 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 0.959 | N | 0.421 | 0.304 | 0.290222751274 | gnomAD-4.0.0 | 1.59155E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85883E-06 | 0 | 0 |
| A/V | None | None | 0.061 | N | 0.254 | 0.156 | 0.282575091529 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.493 | ambiguous | 0.5379 | ambiguous | -0.849 | Destabilizing | 0.999 | D | 0.465 | neutral | None | None | None | None | I |
| A/D | 0.7653 | likely_pathogenic | 0.7024 | pathogenic | -0.428 | Destabilizing | 0.997 | D | 0.622 | neutral | None | None | None | None | I |
| A/E | 0.6071 | likely_pathogenic | 0.5861 | pathogenic | -0.581 | Destabilizing | 0.996 | D | 0.473 | neutral | N | 0.4899132 | None | None | I |
| A/F | 0.3717 | ambiguous | 0.3863 | ambiguous | -0.897 | Destabilizing | 0.991 | D | 0.623 | neutral | None | None | None | None | I |
| A/G | 0.3019 | likely_benign | 0.2708 | benign | -0.228 | Destabilizing | 0.986 | D | 0.396 | neutral | N | 0.493418692 | None | None | I |
| A/H | 0.6634 | likely_pathogenic | 0.6855 | pathogenic | -0.213 | Destabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | I |
| A/I | 0.2189 | likely_benign | 0.2189 | benign | -0.403 | Destabilizing | 0.079 | N | 0.377 | neutral | None | None | None | None | I |
| A/K | 0.7476 | likely_pathogenic | 0.7488 | pathogenic | -0.503 | Destabilizing | 0.997 | D | 0.476 | neutral | None | None | None | None | I |
| A/L | 0.2323 | likely_benign | 0.2391 | benign | -0.403 | Destabilizing | 0.759 | D | 0.442 | neutral | None | None | None | None | I |
| A/M | 0.2577 | likely_benign | 0.256 | benign | -0.512 | Destabilizing | 0.991 | D | 0.517 | neutral | None | None | None | None | I |
| A/N | 0.5558 | ambiguous | 0.5144 | ambiguous | -0.244 | Destabilizing | 0.997 | D | 0.627 | neutral | None | None | None | None | I |
| A/P | 0.9159 | likely_pathogenic | 0.8862 | pathogenic | -0.317 | Destabilizing | 0.996 | D | 0.505 | neutral | D | 0.531655118 | None | None | I |
| A/Q | 0.5882 | likely_pathogenic | 0.5952 | pathogenic | -0.504 | Destabilizing | 0.997 | D | 0.505 | neutral | None | None | None | None | I |
| A/R | 0.6468 | likely_pathogenic | 0.6646 | pathogenic | -0.075 | Destabilizing | 0.997 | D | 0.504 | neutral | None | None | None | None | I |
| A/S | 0.1329 | likely_benign | 0.1265 | benign | -0.44 | Destabilizing | 0.959 | D | 0.421 | neutral | N | 0.487480436 | None | None | I |
| A/T | 0.1127 | likely_benign | 0.1081 | benign | -0.517 | Destabilizing | 0.92 | D | 0.407 | neutral | N | 0.507786737 | None | None | I |
| A/V | 0.1074 | likely_benign | 0.1084 | benign | -0.317 | Destabilizing | 0.061 | N | 0.254 | neutral | N | 0.448440792 | None | None | I |
| A/W | 0.8535 | likely_pathogenic | 0.8656 | pathogenic | -0.996 | Destabilizing | 0.999 | D | 0.686 | prob.neutral | None | None | None | None | I |
| A/Y | 0.6339 | likely_pathogenic | 0.6537 | pathogenic | -0.675 | Destabilizing | 0.997 | D | 0.627 | neutral | 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.