Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17435 | 52528;52529;52530 | chr2:178608708;178608707;178608706 | chr2:179473435;179473434;179473433 |
| N2AB | 15794 | 47605;47606;47607 | chr2:178608708;178608707;178608706 | chr2:179473435;179473434;179473433 |
| N2A | 14867 | 44824;44825;44826 | chr2:178608708;178608707;178608706 | chr2:179473435;179473434;179473433 |
| N2B | 8370 | 25333;25334;25335 | chr2:178608708;178608707;178608706 | chr2:179473435;179473434;179473433 |
| Novex-1 | 8495 | 25708;25709;25710 | chr2:178608708;178608707;178608706 | chr2:179473435;179473434;179473433 |
| Novex-2 | 8562 | 25909;25910;25911 | chr2:178608708;178608707;178608706 | chr2:179473435;179473434;179473433 |
| 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/Q | rs1060500542  |
-2.045 | 1.0 | D | 0.871 | 0.848 | 0.935963502062 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.73E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/Q | rs1060500542 |
-2.045 | 1.0 | D | 0.871 | 0.848 | 0.935963502062 | gnomAD-4.0.0 | 3.42372E-06 | None | None | None | None | N | None | 0 | 6.72043E-05 | None | 0 | 0 | None | 0 | 0 | 1.79978E-06 | 0 | 0 |
| L/V | None | None | 0.999 | D | 0.835 | 0.615 | 0.805037413771 | gnomAD-4.0.0 | 6.84748E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.83171E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.984 | likely_pathogenic | 0.9811 | pathogenic | -2.602 | Highly Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| L/C | 0.9774 | likely_pathogenic | 0.9709 | pathogenic | -2.146 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| L/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| L/E | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/F | 0.9012 | likely_pathogenic | 0.9022 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| L/G | 0.9956 | likely_pathogenic | 0.9945 | pathogenic | -3.14 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| L/H | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| L/I | 0.4563 | ambiguous | 0.4235 | ambiguous | -1.07 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | N |
| L/K | 0.9957 | likely_pathogenic | 0.995 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/M | 0.503 | ambiguous | 0.4896 | ambiguous | -1.098 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.617382488 | None | None | N |
| L/N | 0.9958 | likely_pathogenic | 0.9949 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| L/P | 0.9961 | likely_pathogenic | 0.995 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.663229648 | None | None | N |
| L/Q | 0.9936 | likely_pathogenic | 0.9919 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.663229648 | None | None | N |
| L/R | 0.993 | likely_pathogenic | 0.991 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.663229648 | None | None | N |
| L/S | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -2.982 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/T | 0.9886 | likely_pathogenic | 0.9872 | pathogenic | -2.623 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| L/V | 0.6441 | likely_pathogenic | 0.5898 | pathogenic | -1.558 | Destabilizing | 0.999 | D | 0.835 | deleterious | D | 0.58955309 | None | None | N |
| L/W | 0.989 | likely_pathogenic | 0.9874 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| L/Y | 0.9902 | likely_pathogenic | 0.9887 | pathogenic | -1.611 | Destabilizing | 1.0 | D | 0.837 | 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.