Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17143 | 51652;51653;51654 | chr2:178610099;178610098;178610097 | chr2:179474826;179474825;179474824 |
| N2AB | 15502 | 46729;46730;46731 | chr2:178610099;178610098;178610097 | chr2:179474826;179474825;179474824 |
| N2A | 14575 | 43948;43949;43950 | chr2:178610099;178610098;178610097 | chr2:179474826;179474825;179474824 |
| N2B | 8078 | 24457;24458;24459 | chr2:178610099;178610098;178610097 | chr2:179474826;179474825;179474824 |
| Novex-1 | 8203 | 24832;24833;24834 | chr2:178610099;178610098;178610097 | chr2:179474826;179474825;179474824 |
| Novex-2 | 8270 | 25033;25034;25035 | chr2:178610099;178610098;178610097 | chr2:179474826;179474825;179474824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1162344519  |
0.525 | 1.0 | N | 0.773 | 0.294 | 0.271763555656 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs1162344519 |
0.525 | 1.0 | N | 0.773 | 0.294 | 0.271763555656 | gnomAD-4.0.0 | 1.59353E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
| D/V | None | None | 1.0 | N | 0.777 | 0.391 | 0.484329738948 | gnomAD-4.0.0 | 1.59357E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86193E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8424 | likely_pathogenic | 0.6367 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.721 | deleterious | N | 0.488249108 | None | None | N |
| D/C | 0.974 | likely_pathogenic | 0.9334 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/E | 0.5459 | ambiguous | 0.4195 | ambiguous | -0.339 | Destabilizing | 0.999 | D | 0.522 | neutral | N | 0.435129486 | None | None | N |
| D/F | 0.96 | likely_pathogenic | 0.8775 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/G | 0.891 | likely_pathogenic | 0.7312 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.498159458 | None | None | N |
| D/H | 0.9131 | likely_pathogenic | 0.7722 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.522519185 | None | None | N |
| D/I | 0.9453 | likely_pathogenic | 0.8171 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/K | 0.9711 | likely_pathogenic | 0.9071 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/L | 0.9133 | likely_pathogenic | 0.7738 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/M | 0.9745 | likely_pathogenic | 0.9232 | pathogenic | 0.254 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/N | 0.6528 | likely_pathogenic | 0.4269 | ambiguous | 0.037 | Stabilizing | 1.0 | D | 0.773 | deleterious | N | 0.477824258 | None | None | N |
| D/P | 0.9607 | likely_pathogenic | 0.8813 | pathogenic | 0.005 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/Q | 0.9501 | likely_pathogenic | 0.8578 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/R | 0.9792 | likely_pathogenic | 0.932 | pathogenic | 0.375 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/S | 0.7808 | likely_pathogenic | 0.5595 | ambiguous | -0.075 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/T | 0.9196 | likely_pathogenic | 0.7902 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/V | 0.88 | likely_pathogenic | 0.6766 | pathogenic | 0.005 | Stabilizing | 1.0 | D | 0.777 | deleterious | N | 0.465364396 | None | None | N |
| D/W | 0.9921 | likely_pathogenic | 0.9762 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| D/Y | 0.8038 | likely_pathogenic | 0.5676 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.522345826 | 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.