Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21883 | 65872;65873;65874 | chr2:178583156;178583155;178583154 | chr2:179447883;179447882;179447881 |
| N2AB | 20242 | 60949;60950;60951 | chr2:178583156;178583155;178583154 | chr2:179447883;179447882;179447881 |
| N2A | 19315 | 58168;58169;58170 | chr2:178583156;178583155;178583154 | chr2:179447883;179447882;179447881 |
| N2B | 12818 | 38677;38678;38679 | chr2:178583156;178583155;178583154 | chr2:179447883;179447882;179447881 |
| Novex-1 | 12943 | 39052;39053;39054 | chr2:178583156;178583155;178583154 | chr2:179447883;179447882;179447881 |
| Novex-2 | 13010 | 39253;39254;39255 | chr2:178583156;178583155;178583154 | chr2:179447883;179447882;179447881 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs374736305  |
-1.539 | 0.999 | N | 0.816 | 0.241 | 0.644691464373 | gnomAD-2.1.1 | 9.35E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.05219E-04 | 0 |
| L/F | rs374736305 |
-1.539 | 0.999 | N | 0.816 | 0.241 | 0.644691464373 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 7.36E-05 | 0 | 0 |
| L/F | rs374736305 |
-1.539 | 0.999 | N | 0.816 | 0.241 | 0.644691464373 | gnomAD-4.0.0 | 7.38114E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.69102E-05 | 0 | 9.24495E-05 | 0 | 1.12205E-04 |
| L/V | rs754416903 |
-1.008 | 0.981 | D | 0.678 | 0.49 | 0.624128296751 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs754416903 |
-1.008 | 0.981 | D | 0.678 | 0.49 | 0.624128296751 | gnomAD-4.0.0 | 1.36958E-06 | None | None | None | None | N | None | 2.99258E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65843E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.956 | likely_pathogenic | 0.95 | pathogenic | -2.616 | Highly Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | None | N |
| L/C | 0.9336 | likely_pathogenic | 0.9232 | pathogenic | -2.043 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| L/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.382 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| L/E | 0.9974 | likely_pathogenic | 0.9965 | pathogenic | -3.079 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| L/F | 0.3344 | likely_benign | 0.2984 | benign | -1.674 | Destabilizing | 0.999 | D | 0.816 | deleterious | N | 0.500216407 | None | None | N |
| L/G | 0.995 | likely_pathogenic | 0.9936 | pathogenic | -3.185 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| L/H | 0.9898 | likely_pathogenic | 0.9868 | pathogenic | -2.873 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| L/I | 0.158 | likely_benign | 0.152 | benign | -0.908 | Destabilizing | 0.91 | D | 0.355 | neutral | None | None | None | None | N |
| L/K | 0.9935 | likely_pathogenic | 0.992 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| L/M | 0.2179 | likely_benign | 0.2253 | benign | -1.034 | Destabilizing | 0.999 | D | 0.76 | deleterious | D | 0.5749337 | None | None | N |
| L/N | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| L/P | 0.9931 | likely_pathogenic | 0.9908 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| L/Q | 0.9873 | likely_pathogenic | 0.9836 | pathogenic | -2.525 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| L/R | 0.9868 | likely_pathogenic | 0.9833 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| L/S | 0.9954 | likely_pathogenic | 0.9944 | pathogenic | -3.406 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.613130341 | None | None | N |
| L/T | 0.977 | likely_pathogenic | 0.9725 | pathogenic | -2.936 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| L/V | 0.2544 | likely_benign | 0.2492 | benign | -1.468 | Destabilizing | 0.981 | D | 0.678 | prob.neutral | D | 0.542471924 | None | None | N |
| L/W | 0.8931 | likely_pathogenic | 0.8684 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.553464025 | None | None | N |
| L/Y | 0.9523 | likely_pathogenic | 0.9434 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.853 | 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.