Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17316 | 52171;52172;52173 | chr2:178609364;178609363;178609362 | chr2:179474091;179474090;179474089 |
| N2AB | 15675 | 47248;47249;47250 | chr2:178609364;178609363;178609362 | chr2:179474091;179474090;179474089 |
| N2A | 14748 | 44467;44468;44469 | chr2:178609364;178609363;178609362 | chr2:179474091;179474090;179474089 |
| N2B | 8251 | 24976;24977;24978 | chr2:178609364;178609363;178609362 | chr2:179474091;179474090;179474089 |
| Novex-1 | 8376 | 25351;25352;25353 | chr2:178609364;178609363;178609362 | chr2:179474091;179474090;179474089 |
| Novex-2 | 8443 | 25552;25553;25554 | chr2:178609364;178609363;178609362 | chr2:179474091;179474090;179474089 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/R | rs368529230  |
-1.531 | 0.949 | N | 0.761 | 0.42 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| L/R | rs368529230 |
-1.531 | 0.949 | N | 0.761 | 0.42 | None | gnomAD-4.0.0 | 1.59456E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86384E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.286 | likely_benign | 0.2877 | benign | -1.31 | Destabilizing | 0.415 | N | 0.589 | neutral | None | None | None | None | N |
| L/C | 0.5451 | ambiguous | 0.587 | pathogenic | -0.955 | Destabilizing | 0.996 | D | 0.671 | neutral | None | None | None | None | N |
| L/D | 0.6809 | likely_pathogenic | 0.6571 | pathogenic | -0.682 | Destabilizing | 0.961 | D | 0.773 | deleterious | None | None | None | None | N |
| L/E | 0.3835 | ambiguous | 0.3546 | ambiguous | -0.649 | Destabilizing | 0.961 | D | 0.753 | deleterious | None | None | None | None | N |
| L/F | 0.1578 | likely_benign | 0.1675 | benign | -0.771 | Destabilizing | 0.923 | D | 0.691 | prob.neutral | None | None | None | None | N |
| L/G | 0.5781 | likely_pathogenic | 0.5602 | ambiguous | -1.618 | Destabilizing | 0.961 | D | 0.731 | prob.delet. | None | None | None | None | N |
| L/H | 0.319 | likely_benign | 0.3214 | benign | -0.59 | Destabilizing | 0.996 | D | 0.763 | deleterious | None | None | None | None | N |
| L/I | 0.101 | likely_benign | 0.1179 | benign | -0.538 | Destabilizing | 0.197 | N | 0.571 | neutral | None | None | None | None | N |
| L/K | 0.3484 | ambiguous | 0.3124 | benign | -0.882 | Destabilizing | 0.961 | D | 0.719 | prob.delet. | None | None | None | None | N |
| L/M | 0.1346 | likely_benign | 0.1515 | benign | -0.642 | Destabilizing | 0.901 | D | 0.679 | prob.neutral | N | 0.505963369 | None | None | N |
| L/N | 0.4477 | ambiguous | 0.4214 | ambiguous | -0.905 | Destabilizing | 0.987 | D | 0.796 | deleterious | None | None | None | None | N |
| L/P | 0.1873 | likely_benign | 0.1605 | benign | -0.765 | Destabilizing | 0.003 | N | 0.518 | neutral | N | 0.450014086 | None | None | N |
| L/Q | 0.2215 | likely_benign | 0.22 | benign | -0.99 | Destabilizing | 0.983 | D | 0.764 | deleterious | N | 0.478305588 | None | None | N |
| L/R | 0.3096 | likely_benign | 0.2918 | benign | -0.339 | Destabilizing | 0.949 | D | 0.761 | deleterious | N | 0.478305588 | None | None | N |
| L/S | 0.3355 | likely_benign | 0.3331 | benign | -1.496 | Destabilizing | 0.775 | D | 0.712 | prob.delet. | None | None | None | None | N |
| L/T | 0.2536 | likely_benign | 0.2614 | benign | -1.336 | Destabilizing | 0.775 | D | 0.631 | neutral | None | None | None | None | N |
| L/V | 0.1107 | likely_benign | 0.1298 | benign | -0.765 | Destabilizing | 0.008 | N | 0.318 | neutral | N | 0.47754512 | None | None | N |
| L/W | 0.304 | likely_benign | 0.3206 | benign | -0.833 | Destabilizing | 0.996 | D | 0.755 | deleterious | None | None | None | None | N |
| L/Y | 0.3313 | likely_benign | 0.3405 | ambiguous | -0.603 | Destabilizing | 0.961 | D | 0.7 | prob.neutral | 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.