Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32713 | 98362;98363;98364 | chr2:178539928;178539927;178539926 | chr2:179404655;179404654;179404653 |
| N2AB | 31072 | 93439;93440;93441 | chr2:178539928;178539927;178539926 | chr2:179404655;179404654;179404653 |
| N2A | 30145 | 90658;90659;90660 | chr2:178539928;178539927;178539926 | chr2:179404655;179404654;179404653 |
| N2B | 23648 | 71167;71168;71169 | chr2:178539928;178539927;178539926 | chr2:179404655;179404654;179404653 |
| Novex-1 | 23773 | 71542;71543;71544 | chr2:178539928;178539927;178539926 | chr2:179404655;179404654;179404653 |
| Novex-2 | 23840 | 71743;71744;71745 | chr2:178539928;178539927;178539926 | chr2:179404655;179404654;179404653 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1374598528  |
None | 1.0 | N | 0.734 | 0.338 | 0.239305524855 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1374598528 |
None | 1.0 | N | 0.734 | 0.338 | 0.239305524855 | gnomAD-4.0.0 | 1.23953E-06 | None | None | None | None | I | None | 1.33572E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47657E-07 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.697 | 0.301 | 0.216624796971 | gnomAD-4.0.0 | 1.36853E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79904E-06 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.783 | 0.353 | 0.621426341079 | gnomAD-4.0.0 | 6.84246E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99507E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1619 | likely_benign | 0.1777 | benign | -0.357 | Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.459632781 | None | None | I |
| G/C | 0.236 | likely_benign | 0.295 | benign | -0.636 | Destabilizing | 0.953 | D | 0.654 | neutral | N | 0.485280587 | None | None | I |
| G/D | 0.3517 | ambiguous | 0.4062 | ambiguous | -0.479 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.437406495 | None | None | I |
| G/E | 0.2818 | likely_benign | 0.3035 | benign | -0.508 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/F | 0.7072 | likely_pathogenic | 0.7438 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/H | 0.5971 | likely_pathogenic | 0.6436 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/I | 0.3169 | likely_benign | 0.374 | ambiguous | 0.09 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.6616 | likely_pathogenic | 0.6896 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/L | 0.5741 | likely_pathogenic | 0.624 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/M | 0.4811 | ambiguous | 0.5261 | ambiguous | -0.053 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/N | 0.3439 | ambiguous | 0.3993 | ambiguous | -0.624 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/P | 0.8598 | likely_pathogenic | 0.8848 | pathogenic | -0.015 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/Q | 0.4944 | ambiguous | 0.5221 | ambiguous | -0.691 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/R | 0.5714 | likely_pathogenic | 0.6127 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.452802809 | None | None | I |
| G/S | 0.1506 | likely_benign | 0.1742 | benign | -0.93 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.436542491 | None | None | I |
| G/T | 0.1784 | likely_benign | 0.2136 | benign | -0.857 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/V | 0.2124 | likely_benign | 0.2595 | benign | -0.015 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.466001393 | None | None | I |
| G/W | 0.5458 | ambiguous | 0.6007 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/Y | 0.5152 | ambiguous | 0.5738 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.791 | deleterious | 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.