Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31272 | 94039;94040;94041 | chr2:178547812;178547811;178547810 | chr2:179412539;179412538;179412537 |
| N2AB | 29631 | 89116;89117;89118 | chr2:178547812;178547811;178547810 | chr2:179412539;179412538;179412537 |
| N2A | 28704 | 86335;86336;86337 | chr2:178547812;178547811;178547810 | chr2:179412539;179412538;179412537 |
| N2B | 22207 | 66844;66845;66846 | chr2:178547812;178547811;178547810 | chr2:179412539;179412538;179412537 |
| Novex-1 | 22332 | 67219;67220;67221 | chr2:178547812;178547811;178547810 | chr2:179412539;179412538;179412537 |
| Novex-2 | 22399 | 67420;67421;67422 | chr2:178547812;178547811;178547810 | chr2:179412539;179412538;179412537 |
| 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 | rs758010794  |
0.074 | 1.0 | N | 0.807 | 0.462 | 0.586756053714 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.46528E-04 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/I | rs758010794 |
0.074 | 1.0 | N | 0.807 | 0.462 | 0.586756053714 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85356E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs758010794 |
0.074 | 1.0 | N | 0.807 | 0.462 | 0.586756053714 | gnomAD-4.0.0 | 2.60262E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.13955E-04 | None | 0 | 0 | 8.4757E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0831 | likely_benign | 0.0969 | benign | -0.815 | Destabilizing | 0.999 | D | 0.541 | neutral | N | 0.519594388 | None | None | N |
| T/C | 0.3021 | likely_benign | 0.3314 | benign | -1.069 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| T/D | 0.6161 | likely_pathogenic | 0.6867 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/E | 0.3972 | ambiguous | 0.4322 | ambiguous | -1.928 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/F | 0.2543 | likely_benign | 0.2833 | benign | -0.896 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| T/G | 0.2851 | likely_benign | 0.3595 | ambiguous | -1.146 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/H | 0.2652 | likely_benign | 0.2796 | benign | -1.532 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| T/I | 0.1245 | likely_benign | 0.1383 | benign | 0.011 | Stabilizing | 1.0 | D | 0.807 | deleterious | N | 0.491005065 | None | None | N |
| T/K | 0.2261 | likely_benign | 0.2226 | benign | -0.723 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.479843922 | None | None | N |
| T/L | 0.1014 | likely_benign | 0.1111 | benign | 0.011 | Stabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/M | 0.0858 | likely_benign | 0.0908 | benign | 0.117 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| T/N | 0.1872 | likely_benign | 0.2242 | benign | -1.42 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/P | 0.7841 | likely_pathogenic | 0.8473 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.508844056 | None | None | N |
| T/Q | 0.2277 | likely_benign | 0.2388 | benign | -1.405 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| T/R | 0.18 | likely_benign | 0.1771 | benign | -0.732 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.489618198 | None | None | N |
| T/S | 0.112 | likely_benign | 0.1295 | benign | -1.44 | Destabilizing | 0.999 | D | 0.543 | neutral | N | 0.446307351 | None | None | N |
| T/V | 0.1005 | likely_benign | 0.1076 | benign | -0.232 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| T/W | 0.6517 | likely_pathogenic | 0.6887 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| T/Y | 0.3269 | likely_benign | 0.3503 | ambiguous | -0.663 | Destabilizing | 1.0 | D | 0.865 | 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.