Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26979 | 81160;81161;81162 | chr2:178565197;178565196;178565195 | chr2:179429924;179429923;179429922 |
| N2AB | 25338 | 76237;76238;76239 | chr2:178565197;178565196;178565195 | chr2:179429924;179429923;179429922 |
| N2A | 24411 | 73456;73457;73458 | chr2:178565197;178565196;178565195 | chr2:179429924;179429923;179429922 |
| N2B | 17914 | 53965;53966;53967 | chr2:178565197;178565196;178565195 | chr2:179429924;179429923;179429922 |
| Novex-1 | 18039 | 54340;54341;54342 | chr2:178565197;178565196;178565195 | chr2:179429924;179429923;179429922 |
| Novex-2 | 18106 | 54541;54542;54543 | chr2:178565197;178565196;178565195 | chr2:179429924;179429923;179429922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs771437632  |
0.073 | 1.0 | N | 0.89 | 0.559 | 0.785858261312 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/L | rs771437632 |
0.073 | 1.0 | N | 0.89 | 0.559 | 0.785858261312 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs771437632 |
0.073 | 1.0 | N | 0.89 | 0.559 | 0.785858261312 | gnomAD-4.0.0 | 9.91707E-06 | None | None | None | None | N | None | 1.33565E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18678E-05 | 0 | 1.60159E-05 |
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 | 0.3335 | likely_benign | 0.2893 | benign | -0.511 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.491385597 | None | None | N |
| P/C | 0.8332 | likely_pathogenic | 0.8074 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/D | 0.685 | likely_pathogenic | 0.6614 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| P/E | 0.5702 | likely_pathogenic | 0.5432 | ambiguous | -0.417 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/F | 0.8965 | likely_pathogenic | 0.8757 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/G | 0.743 | likely_pathogenic | 0.7117 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/H | 0.622 | likely_pathogenic | 0.5822 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/I | 0.7358 | likely_pathogenic | 0.6964 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/K | 0.7208 | likely_pathogenic | 0.6905 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/L | 0.4445 | ambiguous | 0.4033 | ambiguous | -0.269 | Destabilizing | 1.0 | D | 0.89 | deleterious | N | 0.500697079 | None | None | N |
| P/M | 0.6953 | likely_pathogenic | 0.6441 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/N | 0.6938 | likely_pathogenic | 0.6488 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/Q | 0.5739 | likely_pathogenic | 0.5245 | ambiguous | -0.575 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.494703733 | None | None | N |
| P/R | 0.6228 | likely_pathogenic | 0.5923 | pathogenic | -0.023 | Destabilizing | 1.0 | D | 0.912 | deleterious | N | 0.518644112 | None | None | N |
| P/S | 0.5179 | ambiguous | 0.4673 | ambiguous | -0.744 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.507034317 | None | None | N |
| P/T | 0.377 | ambiguous | 0.3455 | ambiguous | -0.731 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.495513427 | None | None | N |
| P/V | 0.5883 | likely_pathogenic | 0.5465 | ambiguous | -0.316 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/W | 0.9542 | likely_pathogenic | 0.9489 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/Y | 0.8762 | likely_pathogenic | 0.8547 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.918 | 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.