Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22246 | 66961;66962;66963 | chr2:178581532;178581531;178581530 | chr2:179446259;179446258;179446257 |
| N2AB | 20605 | 62038;62039;62040 | chr2:178581532;178581531;178581530 | chr2:179446259;179446258;179446257 |
| N2A | 19678 | 59257;59258;59259 | chr2:178581532;178581531;178581530 | chr2:179446259;179446258;179446257 |
| N2B | 13181 | 39766;39767;39768 | chr2:178581532;178581531;178581530 | chr2:179446259;179446258;179446257 |
| Novex-1 | 13306 | 40141;40142;40143 | chr2:178581532;178581531;178581530 | chr2:179446259;179446258;179446257 |
| Novex-2 | 13373 | 40342;40343;40344 | chr2:178581532;178581531;178581530 | chr2:179446259;179446258;179446257 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.441 | N | 0.676 | 0.233 | 0.357313475932 | gnomAD-4.0.0 | 1.60916E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89971E-06 | 0 | 0 |
| V/M | rs1393150545  |
-0.63 | 0.988 | N | 0.662 | 0.182 | 0.432716982437 | gnomAD-2.1.1 | 8.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 9.02E-06 | 0 |
| V/M | rs1393150545 |
-0.63 | 0.988 | N | 0.662 | 0.182 | 0.432716982437 | gnomAD-4.0.0 | 1.78752E-05 | None | None | None | None | N | None | 3.00174E-05 | 0 | None | 0 | 2.53601E-05 | None | 0 | 0 | 2.07814E-05 | 0 | 1.66583E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7568 | likely_pathogenic | 0.7498 | pathogenic | -2.057 | Highly Destabilizing | 0.441 | N | 0.676 | prob.neutral | N | 0.496081945 | None | None | N |
| V/C | 0.8987 | likely_pathogenic | 0.9002 | pathogenic | -1.429 | Destabilizing | 0.998 | D | 0.762 | deleterious | None | None | None | None | N |
| V/D | 0.9843 | likely_pathogenic | 0.9858 | pathogenic | -2.766 | Highly Destabilizing | 0.947 | D | 0.86 | deleterious | None | None | None | None | N |
| V/E | 0.9706 | likely_pathogenic | 0.9726 | pathogenic | -2.612 | Highly Destabilizing | 0.931 | D | 0.842 | deleterious | N | 0.504605427 | None | None | N |
| V/F | 0.795 | likely_pathogenic | 0.7979 | pathogenic | -1.301 | Destabilizing | 0.973 | D | 0.743 | deleterious | None | None | None | None | N |
| V/G | 0.8828 | likely_pathogenic | 0.8863 | pathogenic | -2.534 | Highly Destabilizing | 0.931 | D | 0.857 | deleterious | N | 0.511385502 | None | None | N |
| V/H | 0.9909 | likely_pathogenic | 0.9915 | pathogenic | -2.356 | Highly Destabilizing | 0.998 | D | 0.884 | deleterious | None | None | None | None | N |
| V/I | 0.1112 | likely_benign | 0.1097 | benign | -0.752 | Destabilizing | 0.676 | D | 0.625 | neutral | None | None | None | None | N |
| V/K | 0.9846 | likely_pathogenic | 0.986 | pathogenic | -1.917 | Destabilizing | 0.947 | D | 0.843 | deleterious | None | None | None | None | N |
| V/L | 0.6228 | likely_pathogenic | 0.625 | pathogenic | -0.752 | Destabilizing | 0.441 | N | 0.695 | prob.delet. | N | 0.463412166 | None | None | N |
| V/M | 0.6445 | likely_pathogenic | 0.643 | pathogenic | -0.578 | Destabilizing | 0.988 | D | 0.662 | prob.neutral | N | 0.4676818 | None | None | N |
| V/N | 0.9604 | likely_pathogenic | 0.9605 | pathogenic | -2.023 | Highly Destabilizing | 0.947 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.9585 | likely_pathogenic | 0.9613 | pathogenic | -1.159 | Destabilizing | 0.973 | D | 0.825 | deleterious | None | None | None | None | N |
| V/Q | 0.9747 | likely_pathogenic | 0.977 | pathogenic | -1.978 | Destabilizing | 0.973 | D | 0.866 | deleterious | None | None | None | None | N |
| V/R | 0.9774 | likely_pathogenic | 0.9804 | pathogenic | -1.575 | Destabilizing | 0.947 | D | 0.887 | deleterious | None | None | None | None | N |
| V/S | 0.866 | likely_pathogenic | 0.8645 | pathogenic | -2.543 | Highly Destabilizing | 0.899 | D | 0.804 | deleterious | None | None | None | None | N |
| V/T | 0.7317 | likely_pathogenic | 0.7268 | pathogenic | -2.269 | Highly Destabilizing | 0.016 | N | 0.392 | neutral | None | None | None | None | N |
| V/W | 0.9961 | likely_pathogenic | 0.9966 | pathogenic | -1.835 | Destabilizing | 0.998 | D | 0.85 | deleterious | None | None | None | None | N |
| V/Y | 0.9764 | likely_pathogenic | 0.9788 | pathogenic | -1.479 | Destabilizing | 0.991 | D | 0.745 | 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.