Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4888 | 14887;14888;14889 | chr2:178735784;178735783;178735782 | chr2:179600511;179600510;179600509 |
| N2AB | 4571 | 13936;13937;13938 | chr2:178735784;178735783;178735782 | chr2:179600511;179600510;179600509 |
| N2A | 3644 | 11155;11156;11157 | chr2:178735784;178735783;178735782 | chr2:179600511;179600510;179600509 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs376799249  |
-1.59 | 1.0 | D | 0.838 | 0.685 | 0.112648838833 | gnomAD-2.1.1 | 5.72E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4E-05 | 1.09524E-04 | 1.40726E-04 |
| P/A | rs376799249 |
-1.59 | 1.0 | D | 0.838 | 0.685 | 0.112648838833 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 7.35E-05 | 0 | 0 |
| P/A | rs376799249 |
-1.59 | 1.0 | D | 0.838 | 0.685 | 0.112648838833 | gnomAD-4.0.0 | 1.38821E-04 | None | None | None | None | N | None | 2.66951E-05 | 0 | None | 0 | 0 | None | 6.25332E-05 | 0 | 1.80538E-04 | 0 | 8.00769E-05 |
| P/R | None | None | 1.0 | D | 0.877 | 0.683 | 0.215109475489 | gnomAD-4.0.0 | 1.59147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8582E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.881 | 0.706 | 0.112648838833 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.881 | 0.706 | 0.112648838833 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92678E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6676 | likely_pathogenic | 0.4888 | ambiguous | -1.714 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.716504094 | None | None | N |
| P/C | 0.9773 | likely_pathogenic | 0.95 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/D | 0.9915 | likely_pathogenic | 0.9918 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/E | 0.9735 | likely_pathogenic | 0.9737 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/F | 0.991 | likely_pathogenic | 0.9866 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/G | 0.9581 | likely_pathogenic | 0.9401 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/H | 0.9651 | likely_pathogenic | 0.9624 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/I | 0.8994 | likely_pathogenic | 0.8467 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/K | 0.9794 | likely_pathogenic | 0.9806 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/L | 0.7171 | likely_pathogenic | 0.6476 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.764204123 | None | None | N |
| P/M | 0.958 | likely_pathogenic | 0.9345 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/N | 0.9835 | likely_pathogenic | 0.9812 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/Q | 0.9496 | likely_pathogenic | 0.9434 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.798624869 | None | None | N |
| P/R | 0.9489 | likely_pathogenic | 0.9499 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.798624869 | None | None | N |
| P/S | 0.9173 | likely_pathogenic | 0.879 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.764499675 | None | None | N |
| P/T | 0.8317 | likely_pathogenic | 0.7817 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.799148673 | None | None | N |
| P/V | 0.8342 | likely_pathogenic | 0.7415 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/W | 0.9958 | likely_pathogenic | 0.9945 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/Y | 0.9878 | likely_pathogenic | 0.9845 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.883 | 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.