Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35145 | 105658;105659;105660 | chr2:178531182;178531181;178531180 | chr2:179395909;179395908;179395907 |
| N2AB | 33504 | 100735;100736;100737 | chr2:178531182;178531181;178531180 | chr2:179395909;179395908;179395907 |
| N2A | 32577 | 97954;97955;97956 | chr2:178531182;178531181;178531180 | chr2:179395909;179395908;179395907 |
| N2B | 26080 | 78463;78464;78465 | chr2:178531182;178531181;178531180 | chr2:179395909;179395908;179395907 |
| Novex-1 | 26205 | 78838;78839;78840 | chr2:178531182;178531181;178531180 | chr2:179395909;179395908;179395907 |
| Novex-2 | 26272 | 79039;79040;79041 | chr2:178531182;178531181;178531180 | chr2:179395909;179395908;179395907 |
| 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/T | rs768379481  |
-0.319 | None | N | 0.118 | 0.031 | 0.0297737177859 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/T | rs768379481 |
-0.319 | None | N | 0.118 | 0.031 | 0.0297737177859 | gnomAD-4.0.0 | 1.59087E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 | 0.073 | likely_benign | 0.0779 | benign | -0.656 | Destabilizing | 0.09 | N | 0.336 | neutral | N | 0.462155798 | None | None | N |
| S/C | 0.1898 | likely_benign | 0.1783 | benign | -0.478 | Destabilizing | 0.928 | D | 0.355 | neutral | N | 0.482941083 | None | None | N |
| S/D | 0.4 | ambiguous | 0.4651 | ambiguous | -0.156 | Destabilizing | 0.388 | N | 0.339 | neutral | None | None | None | None | N |
| S/E | 0.4521 | ambiguous | 0.4849 | ambiguous | -0.216 | Destabilizing | 0.388 | N | 0.353 | neutral | None | None | None | None | N |
| S/F | 0.205 | likely_benign | 0.2476 | benign | -1.075 | Destabilizing | 0.773 | D | 0.413 | neutral | N | 0.464583339 | None | None | N |
| S/G | 0.1215 | likely_benign | 0.1284 | benign | -0.825 | Destabilizing | 0.207 | N | 0.363 | neutral | None | None | None | None | N |
| S/H | 0.3336 | likely_benign | 0.3483 | ambiguous | -1.321 | Destabilizing | 0.981 | D | 0.356 | neutral | None | None | None | None | N |
| S/I | 0.1544 | likely_benign | 0.1754 | benign | -0.328 | Destabilizing | 0.527 | D | 0.379 | neutral | None | None | None | None | N |
| S/K | 0.5051 | ambiguous | 0.5391 | ambiguous | -0.646 | Destabilizing | 0.388 | N | 0.344 | neutral | None | None | None | None | N |
| S/L | 0.0997 | likely_benign | 0.1167 | benign | -0.328 | Destabilizing | 0.241 | N | 0.387 | neutral | None | None | None | None | N |
| S/M | 0.1822 | likely_benign | 0.1961 | benign | 0.051 | Stabilizing | 0.818 | D | 0.362 | neutral | None | None | None | None | N |
| S/N | 0.1428 | likely_benign | 0.1607 | benign | -0.46 | Destabilizing | 0.388 | N | 0.386 | neutral | None | None | None | None | N |
| S/P | 0.0972 | likely_benign | 0.1425 | benign | -0.407 | Destabilizing | 0.001 | N | 0.212 | neutral | N | 0.452765524 | None | None | N |
| S/Q | 0.42 | ambiguous | 0.4428 | ambiguous | -0.746 | Destabilizing | 0.818 | D | 0.369 | neutral | None | None | None | None | N |
| S/R | 0.4445 | ambiguous | 0.4783 | ambiguous | -0.41 | Destabilizing | 0.69 | D | 0.34 | neutral | None | None | None | None | N |
| S/T | 0.0704 | likely_benign | 0.0736 | benign | -0.564 | Destabilizing | None | N | 0.118 | neutral | N | 0.384308303 | None | None | N |
| S/V | 0.1622 | likely_benign | 0.1772 | benign | -0.407 | Destabilizing | 0.241 | N | 0.387 | neutral | None | None | None | None | N |
| S/W | 0.3164 | likely_benign | 0.3555 | ambiguous | -1.003 | Destabilizing | 0.981 | D | 0.516 | neutral | None | None | None | None | N |
| S/Y | 0.1955 | likely_benign | 0.229 | benign | -0.754 | Destabilizing | 0.773 | D | 0.406 | neutral | N | 0.506928083 | 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.