Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2911 | 8956;8957;8958 | chr2:178769850;178769849;178769848 | chr2:179634577;179634576;179634575 |
| N2AB | 2911 | 8956;8957;8958 | chr2:178769850;178769849;178769848 | chr2:179634577;179634576;179634575 |
| N2A | 2911 | 8956;8957;8958 | chr2:178769850;178769849;178769848 | chr2:179634577;179634576;179634575 |
| N2B | 2865 | 8818;8819;8820 | chr2:178769850;178769849;178769848 | chr2:179634577;179634576;179634575 |
| Novex-1 | 2865 | 8818;8819;8820 | chr2:178769850;178769849;178769848 | chr2:179634577;179634576;179634575 |
| Novex-2 | 2865 | 8818;8819;8820 | chr2:178769850;178769849;178769848 | chr2:179634577;179634576;179634575 |
| Novex-3 | 2911 | 8956;8957;8958 | chr2:178769850;178769849;178769848 | chr2:179634577;179634576;179634575 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs770166191  |
0.123 | 1.0 | D | 0.821 | 0.747 | 0.768786753902 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| P/R | rs770166191 |
0.123 | 1.0 | D | 0.821 | 0.747 | 0.768786753902 | gnomAD-4.0.0 | 1.59049E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.589 | likely_pathogenic | 0.5526 | ambiguous | -0.26 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.530845976 | None | None | N |
| P/C | 0.9843 | likely_pathogenic | 0.9829 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| P/D | 0.9607 | likely_pathogenic | 0.9556 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/E | 0.9224 | likely_pathogenic | 0.9002 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/F | 0.9868 | likely_pathogenic | 0.9861 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/G | 0.9395 | likely_pathogenic | 0.9377 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/H | 0.8607 | likely_pathogenic | 0.8539 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.532465539 | None | None | N |
| P/I | 0.9669 | likely_pathogenic | 0.9642 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/K | 0.9403 | likely_pathogenic | 0.9351 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.7619 | likely_pathogenic | 0.7387 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.522893461 | None | None | N |
| P/M | 0.9611 | likely_pathogenic | 0.9575 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/N | 0.9481 | likely_pathogenic | 0.9433 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/Q | 0.8396 | likely_pathogenic | 0.8125 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/R | 0.8386 | likely_pathogenic | 0.8224 | pathogenic | 0.13 | Stabilizing | 1.0 | D | 0.821 | deleterious | D | 0.526188201 | None | None | N |
| P/S | 0.7915 | likely_pathogenic | 0.7615 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.530875368 | None | None | N |
| P/T | 0.7963 | likely_pathogenic | 0.754 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.512083195 | None | None | N |
| P/V | 0.924 | likely_pathogenic | 0.9157 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/W | 0.9939 | likely_pathogenic | 0.9941 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| P/Y | 0.9793 | likely_pathogenic | 0.9776 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.827 | 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.