Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4606 | 14041;14042;14043 | chr2:178739417;178739416;178739415 | chr2:179604144;179604143;179604142 |
| N2AB | 4289 | 13090;13091;13092 | chr2:178739417;178739416;178739415 | chr2:179604144;179604143;179604142 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4243 | 12952;12953;12954 | chr2:178739417;178739416;178739415 | chr2:179604144;179604143;179604142 |
| Novex-1 | 4368 | 13327;13328;13329 | chr2:178739417;178739416;178739415 | chr2:179604144;179604143;179604142 |
| Novex-2 | 4435 | 13528;13529;13530 | chr2:178739417;178739416;178739415 | chr2:179604144;179604143;179604142 |
| 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/L | None | None | 1.0 | D | 0.911 | 0.624 | None | gnomAD-4.0.0 | 6.84201E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| P/R | rs762079270  |
0.336 | 1.0 | D | 0.913 | 0.596 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/R | rs762079270 |
0.336 | 1.0 | D | 0.913 | 0.596 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs762079270 |
0.336 | 1.0 | D | 0.913 | 0.596 | None | gnomAD-4.0.0 | 1.98317E-05 | None | None | None | None | N | None | 2.67173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.45802E-05 | 0 | 1.60108E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2856 | likely_benign | 0.3065 | benign | -1.395 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.72531822 | None | None | N |
| P/C | 0.7858 | likely_pathogenic | 0.8143 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/D | 0.9279 | likely_pathogenic | 0.9335 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| P/E | 0.8391 | likely_pathogenic | 0.8585 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| P/F | 0.8691 | likely_pathogenic | 0.9006 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/G | 0.7593 | likely_pathogenic | 0.8031 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/H | 0.7594 | likely_pathogenic | 0.7833 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.760960472 | None | None | N |
| P/I | 0.5647 | likely_pathogenic | 0.6425 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/K | 0.8452 | likely_pathogenic | 0.8746 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| P/L | 0.3665 | ambiguous | 0.4102 | ambiguous | -0.763 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.761469178 | None | None | N |
| P/M | 0.727 | likely_pathogenic | 0.7784 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/N | 0.8743 | likely_pathogenic | 0.8838 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/Q | 0.73 | likely_pathogenic | 0.7666 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| P/R | 0.7168 | likely_pathogenic | 0.7494 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.760960472 | None | None | N |
| P/S | 0.6003 | likely_pathogenic | 0.6142 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.761764511 | None | None | N |
| P/T | 0.4808 | ambiguous | 0.5114 | ambiguous | -1.364 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.761469178 | None | None | N |
| P/V | 0.4896 | ambiguous | 0.5545 | ambiguous | -0.942 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/W | 0.9526 | likely_pathogenic | 0.9574 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/Y | 0.8942 | likely_pathogenic | 0.9078 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.927 | 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.