Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17221 | 51886;51887;51888 | chr2:178609762;178609761;178609760 | chr2:179474489;179474488;179474487 |
| N2AB | 15580 | 46963;46964;46965 | chr2:178609762;178609761;178609760 | chr2:179474489;179474488;179474487 |
| N2A | 14653 | 44182;44183;44184 | chr2:178609762;178609761;178609760 | chr2:179474489;179474488;179474487 |
| N2B | 8156 | 24691;24692;24693 | chr2:178609762;178609761;178609760 | chr2:179474489;179474488;179474487 |
| Novex-1 | 8281 | 25066;25067;25068 | chr2:178609762;178609761;178609760 | chr2:179474489;179474488;179474487 |
| Novex-2 | 8348 | 25267;25268;25269 | chr2:178609762;178609761;178609760 | chr2:179474489;179474488;179474487 |
| 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/C | rs780490612  |
-1.633 | 1.0 | D | 0.821 | 0.585 | 0.686698908771 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.9E-06 | 0 |
| R/C | rs780490612 |
-1.633 | 1.0 | D | 0.821 | 0.585 | 0.686698908771 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.58E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs780490612 |
-1.633 | 1.0 | D | 0.821 | 0.585 | 0.686698908771 | gnomAD-4.0.0 | 6.20144E-06 | None | None | None | None | N | None | 0 | 1.66895E-05 | None | 0 | 0 | None | 0 | 0 | 1.69617E-06 | 7.69197E-05 | 0 |
| R/G | None | None | 1.0 | D | 0.714 | 0.584 | 0.702250498375 | gnomAD-4.0.0 | 6.8461E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99925E-07 | 0 | 0 |
| R/H | rs770653436 |
-2.247 | 1.0 | D | 0.809 | 0.657 | 0.652051462523 | gnomAD-2.1.1 | 7.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 6.01588E-04 | 2.35E-05 | 1.40845E-04 |
| R/H | rs770653436 |
-2.247 | 1.0 | D | 0.809 | 0.657 | 0.652051462523 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 5.65398E-04 | 0 | 0 | 0 | 0 |
| R/H | rs770653436 |
-2.247 | 1.0 | D | 0.809 | 0.657 | 0.652051462523 | gnomAD-4.0.0 | 3.28671E-05 | None | None | None | None | N | None | 1.3374E-05 | 1.66839E-05 | None | 0 | 6.69822E-05 | None | 5.00078E-04 | 0 | 1.27212E-05 | 1.09897E-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 | 0.9957 | likely_pathogenic | 0.9932 | pathogenic | -1.907 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | N |
| R/C | 0.9031 | likely_pathogenic | 0.8815 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.535475055 | None | None | N |
| R/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| R/E | 0.9936 | likely_pathogenic | 0.9903 | pathogenic | -0.667 | Destabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | N |
| R/F | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| R/G | 0.9967 | likely_pathogenic | 0.9955 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.55332582 | None | None | N |
| R/H | 0.8592 | likely_pathogenic | 0.857 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.524118749 | None | None | N |
| R/I | 0.9875 | likely_pathogenic | 0.9786 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| R/K | 0.8737 | likely_pathogenic | 0.8315 | pathogenic | -1.236 | Destabilizing | 0.998 | D | 0.621 | neutral | None | None | None | None | N |
| R/L | 0.9796 | likely_pathogenic | 0.9723 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.510129098 | None | None | N |
| R/M | 0.9937 | likely_pathogenic | 0.9898 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/N | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| R/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.553832799 | None | None | N |
| R/Q | 0.8718 | likely_pathogenic | 0.8068 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| R/S | 0.9976 | likely_pathogenic | 0.9965 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.50921359 | None | None | N |
| R/T | 0.9961 | likely_pathogenic | 0.9935 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| R/V | 0.9887 | likely_pathogenic | 0.9825 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| R/W | 0.9501 | likely_pathogenic | 0.9469 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| R/Y | 0.9899 | likely_pathogenic | 0.9892 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.832 | 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.