Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33779 | 101560;101561;101562 | chr2:178535280;178535279;178535278 | chr2:179400007;179400006;179400005 |
| N2AB | 32138 | 96637;96638;96639 | chr2:178535280;178535279;178535278 | chr2:179400007;179400006;179400005 |
| N2A | 31211 | 93856;93857;93858 | chr2:178535280;178535279;178535278 | chr2:179400007;179400006;179400005 |
| N2B | 24714 | 74365;74366;74367 | chr2:178535280;178535279;178535278 | chr2:179400007;179400006;179400005 |
| Novex-1 | 24839 | 74740;74741;74742 | chr2:178535280;178535279;178535278 | chr2:179400007;179400006;179400005 |
| Novex-2 | 24906 | 74941;74942;74943 | chr2:178535280;178535279;178535278 | chr2:179400007;179400006;179400005 |
| 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/S | rs1690922403  |
None | 0.997 | N | 0.79 | 0.295 | 0.239901079897 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1690922403 |
None | 0.997 | N | 0.79 | 0.295 | 0.239901079897 | gnomAD-4.0.0 | 3.84316E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17796E-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 | 0.0766 | likely_benign | 0.0953 | benign | -0.628 | Destabilizing | 0.445 | N | 0.429 | neutral | N | 0.476616323 | None | None | N |
| P/C | 0.6656 | likely_pathogenic | 0.7564 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/D | 0.6367 | likely_pathogenic | 0.717 | pathogenic | -0.375 | Destabilizing | 0.993 | D | 0.792 | deleterious | None | None | None | None | N |
| P/E | 0.4111 | ambiguous | 0.49 | ambiguous | -0.495 | Destabilizing | 0.995 | D | 0.779 | deleterious | None | None | None | None | N |
| P/F | 0.6822 | likely_pathogenic | 0.7681 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/G | 0.4807 | ambiguous | 0.5916 | pathogenic | -0.771 | Destabilizing | 0.995 | D | 0.793 | deleterious | None | None | None | None | N |
| P/H | 0.3599 | ambiguous | 0.449 | ambiguous | -0.313 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/I | 0.3552 | ambiguous | 0.4596 | ambiguous | -0.4 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/K | 0.4363 | ambiguous | 0.5173 | ambiguous | -0.43 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/L | 0.1715 | likely_benign | 0.2314 | benign | -0.4 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.508304667 | None | None | N |
| P/M | 0.4016 | ambiguous | 0.5099 | ambiguous | -0.276 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/N | 0.4676 | ambiguous | 0.5843 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/Q | 0.254 | likely_benign | 0.3292 | benign | -0.445 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.479236505 | None | None | N |
| P/R | 0.3253 | likely_benign | 0.3904 | ambiguous | 0.134 | Stabilizing | 1.0 | D | 0.871 | deleterious | N | 0.47132324 | None | None | N |
| P/S | 0.1951 | likely_benign | 0.2584 | benign | -0.54 | Destabilizing | 0.997 | D | 0.79 | deleterious | N | 0.507363305 | None | None | N |
| P/T | 0.1374 | likely_benign | 0.1903 | benign | -0.562 | Destabilizing | 0.997 | D | 0.74 | deleterious | N | 0.501552053 | None | None | N |
| P/V | 0.2351 | likely_benign | 0.3203 | benign | -0.44 | Destabilizing | 0.998 | D | 0.725 | deleterious | None | None | None | None | N |
| P/W | 0.8714 | likely_pathogenic | 0.9098 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/Y | 0.6457 | likely_pathogenic | 0.7176 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.89 | 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.