Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30111 | 90556;90557;90558 | chr2:178552569;178552568;178552567 | chr2:179417296;179417295;179417294 |
| N2AB | 28470 | 85633;85634;85635 | chr2:178552569;178552568;178552567 | chr2:179417296;179417295;179417294 |
| N2A | 27543 | 82852;82853;82854 | chr2:178552569;178552568;178552567 | chr2:179417296;179417295;179417294 |
| N2B | 21046 | 63361;63362;63363 | chr2:178552569;178552568;178552567 | chr2:179417296;179417295;179417294 |
| Novex-1 | 21171 | 63736;63737;63738 | chr2:178552569;178552568;178552567 | chr2:179417296;179417295;179417294 |
| Novex-2 | 21238 | 63937;63938;63939 | chr2:178552569;178552568;178552567 | chr2:179417296;179417295;179417294 |
| 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/P | rs368516973  |
-1.312 | 0.106 | N | 0.529 | 0.186 | None | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.03E-05 | 0 |
| L/P | rs368516973 |
-1.312 | 0.106 | N | 0.529 | 0.186 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| L/P | rs368516973 |
-1.312 | 0.106 | N | 0.529 | 0.186 | None | gnomAD-4.0.0 | 5.57713E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.37391E-05 | 0 | 4.80338E-05 |
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 | 0.1882 | likely_benign | 0.1549 | benign | -1.545 | Destabilizing | 0.016 | N | 0.441 | neutral | None | None | None | None | I |
| L/C | 0.3453 | ambiguous | 0.3009 | benign | -1.09 | Destabilizing | 0.864 | D | 0.471 | neutral | None | None | None | None | I |
| L/D | 0.5327 | ambiguous | 0.4386 | ambiguous | -0.246 | Destabilizing | 0.038 | N | 0.523 | neutral | None | None | None | None | I |
| L/E | 0.2491 | likely_benign | 0.2006 | benign | -0.211 | Destabilizing | 0.016 | N | 0.509 | neutral | None | None | None | None | I |
| L/F | 0.1094 | likely_benign | 0.0943 | benign | -0.938 | Destabilizing | None | N | 0.266 | neutral | None | None | None | None | I |
| L/G | 0.4135 | ambiguous | 0.3264 | benign | -1.883 | Destabilizing | 0.031 | N | 0.488 | neutral | None | None | None | None | I |
| L/H | 0.1845 | likely_benign | 0.1419 | benign | -0.861 | Destabilizing | 0.214 | N | 0.535 | neutral | None | None | None | None | I |
| L/I | 0.0909 | likely_benign | 0.0843 | benign | -0.69 | Destabilizing | 0.016 | N | 0.315 | neutral | None | None | None | None | I |
| L/K | 0.1596 | likely_benign | 0.1395 | benign | -0.832 | Destabilizing | None | N | 0.361 | neutral | None | None | None | None | I |
| L/M | 0.0953 | likely_benign | 0.0937 | benign | -0.686 | Destabilizing | 0.001 | N | 0.2 | neutral | N | 0.479693914 | None | None | I |
| L/N | 0.2568 | likely_benign | 0.2145 | benign | -0.718 | Destabilizing | 0.001 | N | 0.432 | neutral | None | None | None | None | I |
| L/P | 0.2351 | likely_benign | 0.1839 | benign | -0.943 | Destabilizing | 0.106 | N | 0.529 | neutral | N | 0.482040786 | None | None | I |
| L/Q | 0.1119 | likely_benign | 0.0941 | benign | -0.813 | Destabilizing | None | N | 0.412 | neutral | N | 0.480192559 | None | None | I |
| L/R | 0.1415 | likely_benign | 0.1188 | benign | -0.329 | Destabilizing | None | N | 0.367 | neutral | N | 0.478827122 | None | None | I |
| L/S | 0.2157 | likely_benign | 0.1704 | benign | -1.496 | Destabilizing | 0.016 | N | 0.495 | neutral | None | None | None | None | I |
| L/T | 0.1647 | likely_benign | 0.1443 | benign | -1.327 | Destabilizing | 0.031 | N | 0.407 | neutral | None | None | None | None | I |
| L/V | 0.0906 | likely_benign | 0.0852 | benign | -0.943 | Destabilizing | 0.012 | N | 0.349 | neutral | N | 0.431073248 | None | None | I |
| L/W | 0.2134 | likely_benign | 0.1729 | benign | -0.927 | Destabilizing | 0.864 | D | 0.527 | neutral | None | None | None | None | I |
| L/Y | 0.2266 | likely_benign | 0.1989 | benign | -0.718 | Destabilizing | 0.038 | N | 0.469 | 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.