Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20690 | 62293;62294;62295 | chr2:178589657;178589656;178589655 | chr2:179454384;179454383;179454382 |
| N2AB | 19049 | 57370;57371;57372 | chr2:178589657;178589656;178589655 | chr2:179454384;179454383;179454382 |
| N2A | 18122 | 54589;54590;54591 | chr2:178589657;178589656;178589655 | chr2:179454384;179454383;179454382 |
| N2B | 11625 | 35098;35099;35100 | chr2:178589657;178589656;178589655 | chr2:179454384;179454383;179454382 |
| Novex-1 | 11750 | 35473;35474;35475 | chr2:178589657;178589656;178589655 | chr2:179454384;179454383;179454382 |
| Novex-2 | 11817 | 35674;35675;35676 | chr2:178589657;178589656;178589655 | chr2:179454384;179454383;179454382 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 1.0 | N | 0.749 | 0.344 | 0.434160288164 | gnomAD-4.0.0 | 6.84331E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9959E-07 | 0 | 0 |
| R/L | None | None | 1.0 | N | 0.749 | 0.377 | 0.547893116657 | gnomAD-4.0.0 | 6.84324E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99582E-07 | 0 | 0 |
| R/Q | rs753480368  |
-0.47 | 1.0 | N | 0.704 | 0.328 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/Q | rs753480368 |
-0.47 | 1.0 | N | 0.704 | 0.328 | None | gnomAD-4.0.0 | 1.36865E-05 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | None | 0 | 1.73611E-04 | 1.0795E-05 | 4.63854E-05 | 3.31367E-05 |
| R/W | rs758801935 |
-0.243 | 1.0 | N | 0.824 | 0.39 | 0.308278614506 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/W | rs758801935 |
-0.243 | 1.0 | N | 0.824 | 0.39 | 0.308278614506 | gnomAD-4.0.0 | 6.15898E-06 | None | None | None | None | N | None | 0 | 6.71021E-05 | None | 0 | 0 | None | 0 | 0 | 4.49795E-06 | 1.15961E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9237 | likely_pathogenic | 0.8843 | pathogenic | -0.208 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| R/C | 0.7399 | likely_pathogenic | 0.5974 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| R/D | 0.9626 | likely_pathogenic | 0.9386 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| R/E | 0.8442 | likely_pathogenic | 0.7704 | pathogenic | 0.036 | Stabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| R/F | 0.9637 | likely_pathogenic | 0.933 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/G | 0.8641 | likely_pathogenic | 0.7933 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.481520711 | None | None | N |
| R/H | 0.4291 | ambiguous | 0.3415 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| R/I | 0.8268 | likely_pathogenic | 0.7125 | pathogenic | 0.395 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/K | 0.2593 | likely_benign | 0.2139 | benign | -0.24 | Destabilizing | 0.998 | D | 0.473 | neutral | None | None | None | None | N |
| R/L | 0.7523 | likely_pathogenic | 0.6954 | pathogenic | 0.395 | Stabilizing | 1.0 | D | 0.749 | deleterious | N | 0.480827278 | None | None | N |
| R/M | 0.8537 | likely_pathogenic | 0.7498 | pathogenic | 0.054 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/N | 0.9172 | likely_pathogenic | 0.8712 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| R/P | 0.9939 | likely_pathogenic | 0.9898 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.799 | deleterious | N | 0.500549189 | None | None | N |
| R/Q | 0.3473 | ambiguous | 0.2751 | benign | 0.011 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.459393213 | None | None | N |
| R/S | 0.9389 | likely_pathogenic | 0.8939 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| R/T | 0.8704 | likely_pathogenic | 0.7733 | pathogenic | -0.092 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/V | 0.8719 | likely_pathogenic | 0.7946 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| R/W | 0.7886 | likely_pathogenic | 0.6645 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.469660491 | None | None | N |
| R/Y | 0.9092 | likely_pathogenic | 0.8578 | pathogenic | 0.147 | Stabilizing | 1.0 | D | 0.815 | 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.