Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23186 | 69781;69782;69783 | chr2:178576688;178576687;178576686 | chr2:179441415;179441414;179441413 |
| N2AB | 21545 | 64858;64859;64860 | chr2:178576688;178576687;178576686 | chr2:179441415;179441414;179441413 |
| N2A | 20618 | 62077;62078;62079 | chr2:178576688;178576687;178576686 | chr2:179441415;179441414;179441413 |
| N2B | 14121 | 42586;42587;42588 | chr2:178576688;178576687;178576686 | chr2:179441415;179441414;179441413 |
| Novex-1 | 14246 | 42961;42962;42963 | chr2:178576688;178576687;178576686 | chr2:179441415;179441414;179441413 |
| Novex-2 | 14313 | 43162;43163;43164 | chr2:178576688;178576687;178576686 | chr2:179441415;179441414;179441413 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs769105013  |
-1.111 | 1.0 | D | 0.73 | 0.613 | 0.767110480819 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| W/R | rs769105013 |
-1.111 | 1.0 | D | 0.73 | 0.613 | 0.767110480819 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs769105013 |
-1.111 | 1.0 | D | 0.73 | 0.613 | 0.767110480819 | gnomAD-4.0.0 | 3.84472E-06 | None | None | None | None | N | None | 1.69251E-05 | 3.39006E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9928 | likely_pathogenic | 0.9945 | pathogenic | -2.92 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/C | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.673 | neutral | D | 0.553068649 | None | None | N |
| W/D | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -1.47 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| W/E | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| W/F | 0.7321 | likely_pathogenic | 0.7446 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| W/G | 0.9723 | likely_pathogenic | 0.9778 | pathogenic | -3.107 | Highly Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.53411502 | None | None | N |
| W/H | 0.9928 | likely_pathogenic | 0.9944 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| W/I | 0.9926 | likely_pathogenic | 0.9933 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/L | 0.9752 | likely_pathogenic | 0.9795 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.528581612 | None | None | N |
| W/M | 0.9935 | likely_pathogenic | 0.9944 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| W/N | 0.9974 | likely_pathogenic | 0.9981 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/P | 0.9947 | likely_pathogenic | 0.9963 | pathogenic | -2.486 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/R | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | D | 0.534622 | None | None | N |
| W/S | 0.9878 | likely_pathogenic | 0.9907 | pathogenic | -2.169 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.518604432 | None | None | N |
| W/T | 0.9925 | likely_pathogenic | 0.994 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/V | 0.9907 | likely_pathogenic | 0.9922 | pathogenic | -2.486 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8821 | likely_pathogenic | 0.8964 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.571 | neutral | 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.