Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28568 | 85927;85928;85929 | chr2:178560430;178560429;178560428 | chr2:179425157;179425156;179425155 |
| N2AB | 26927 | 81004;81005;81006 | chr2:178560430;178560429;178560428 | chr2:179425157;179425156;179425155 |
| N2A | 26000 | 78223;78224;78225 | chr2:178560430;178560429;178560428 | chr2:179425157;179425156;179425155 |
| N2B | 19503 | 58732;58733;58734 | chr2:178560430;178560429;178560428 | chr2:179425157;179425156;179425155 |
| Novex-1 | 19628 | 59107;59108;59109 | chr2:178560430;178560429;178560428 | chr2:179425157;179425156;179425155 |
| Novex-2 | 19695 | 59308;59309;59310 | chr2:178560430;178560429;178560428 | chr2:179425157;179425156;179425155 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs756726107  |
-0.136 | 1.0 | N | 0.699 | 0.422 | 0.486779940545 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.91E-06 | 0 |
| T/I | rs756726107 |
-0.136 | 1.0 | N | 0.699 | 0.422 | 0.486779940545 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs756726107 |
-0.136 | 1.0 | N | 0.699 | 0.422 | 0.486779940545 | gnomAD-4.0.0 | 3.09894E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23115E-05 | None | 0 | 0 | 2.54285E-06 | 1.09823E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2569 | likely_benign | 0.2281 | benign | -0.928 | Destabilizing | 0.999 | D | 0.522 | neutral | N | 0.485994001 | None | None | N |
| T/C | 0.6937 | likely_pathogenic | 0.7 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/D | 0.8693 | likely_pathogenic | 0.8753 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| T/E | 0.8231 | likely_pathogenic | 0.8232 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| T/F | 0.4903 | ambiguous | 0.4811 | ambiguous | -0.936 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| T/G | 0.6665 | likely_pathogenic | 0.6586 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| T/H | 0.6025 | likely_pathogenic | 0.5942 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/I | 0.2112 | likely_benign | 0.2047 | benign | -0.168 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.477359947 | None | None | N |
| T/K | 0.7429 | likely_pathogenic | 0.717 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.484601649 | None | None | N |
| T/L | 0.1705 | likely_benign | 0.1581 | benign | -0.168 | Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| T/M | 0.1253 | likely_benign | 0.1116 | benign | -0.034 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/N | 0.3576 | ambiguous | 0.3364 | benign | -1.345 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| T/P | 0.7584 | likely_pathogenic | 0.74 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.524622047 | None | None | N |
| T/Q | 0.6216 | likely_pathogenic | 0.5983 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| T/R | 0.6891 | likely_pathogenic | 0.6563 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.490095377 | None | None | N |
| T/S | 0.2984 | likely_benign | 0.2776 | benign | -1.437 | Destabilizing | 0.999 | D | 0.505 | neutral | N | 0.517788155 | None | None | N |
| T/V | 0.1674 | likely_benign | 0.1719 | benign | -0.391 | Destabilizing | 0.999 | D | 0.523 | neutral | None | None | None | None | N |
| T/W | 0.8289 | likely_pathogenic | 0.8329 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/Y | 0.5305 | ambiguous | 0.5278 | ambiguous | -0.652 | Destabilizing | 1.0 | D | 0.783 | deleterious | 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.