Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33057 | 99394;99395;99396 | chr2:178538660;178538659;178538658 | chr2:179403387;179403386;179403385 |
| N2AB | 31416 | 94471;94472;94473 | chr2:178538660;178538659;178538658 | chr2:179403387;179403386;179403385 |
| N2A | 30489 | 91690;91691;91692 | chr2:178538660;178538659;178538658 | chr2:179403387;179403386;179403385 |
| N2B | 23992 | 72199;72200;72201 | chr2:178538660;178538659;178538658 | chr2:179403387;179403386;179403385 |
| Novex-1 | 24117 | 72574;72575;72576 | chr2:178538660;178538659;178538658 | chr2:179403387;179403386;179403385 |
| Novex-2 | 24184 | 72775;72776;72777 | chr2:178538660;178538659;178538658 | chr2:179403387;179403386;179403385 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.999 | N | 0.667 | 0.323 | 0.215869574891 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79899E-06 | 0 | 0 |
| Q/K | rs756651625  |
0.04 | 0.997 | N | 0.473 | 0.344 | 0.262175524916 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/K | rs756651625 |
0.04 | 0.997 | N | 0.473 | 0.344 | 0.262175524916 | gnomAD-4.0.0 | 7.95661E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.16394E-05 | 0 |
| Q/P | rs1177530238 |
0.155 | 0.999 | N | 0.697 | 0.535 | 0.488337271218 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| Q/P | rs1177530238 |
0.155 | 0.999 | N | 0.697 | 0.535 | 0.488337271218 | gnomAD-4.0.0 | 3.18261E-06 | None | None | None | None | N | None | 0 | 2.28624E-05 | None | 0 | 0 | None | 0 | 0 | 2.85851E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2384 | likely_benign | 0.2764 | benign | -0.509 | Destabilizing | 0.997 | D | 0.541 | neutral | None | None | None | None | N |
| Q/C | 0.5335 | ambiguous | 0.612 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| Q/D | 0.5174 | ambiguous | 0.5742 | pathogenic | -0.255 | Destabilizing | 0.997 | D | 0.529 | neutral | None | None | None | None | N |
| Q/E | 0.1029 | likely_benign | 0.1101 | benign | -0.133 | Destabilizing | 0.992 | D | 0.435 | neutral | N | 0.456334265 | None | None | N |
| Q/F | 0.6477 | likely_pathogenic | 0.7064 | pathogenic | -0.157 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| Q/G | 0.3667 | ambiguous | 0.4279 | ambiguous | -0.87 | Destabilizing | 0.997 | D | 0.634 | neutral | None | None | None | None | N |
| Q/H | 0.2221 | likely_benign | 0.255 | benign | -0.509 | Destabilizing | 0.999 | D | 0.667 | neutral | N | 0.510688825 | None | None | N |
| Q/I | 0.303 | likely_benign | 0.3314 | benign | 0.414 | Stabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| Q/K | 0.1235 | likely_benign | 0.1345 | benign | -0.173 | Destabilizing | 0.997 | D | 0.473 | neutral | N | 0.492583067 | None | None | N |
| Q/L | 0.1467 | likely_benign | 0.1712 | benign | 0.414 | Stabilizing | 0.997 | D | 0.634 | neutral | N | 0.475496615 | None | None | N |
| Q/M | 0.3052 | likely_benign | 0.3392 | benign | 0.536 | Stabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| Q/N | 0.2705 | likely_benign | 0.316 | benign | -0.809 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| Q/P | 0.6876 | likely_pathogenic | 0.7352 | pathogenic | 0.137 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | N | 0.48207998 | None | None | N |
| Q/R | 0.1397 | likely_benign | 0.1538 | benign | -0.118 | Destabilizing | 0.997 | D | 0.505 | neutral | N | 0.481845998 | None | None | N |
| Q/S | 0.2427 | likely_benign | 0.2896 | benign | -0.927 | Destabilizing | 0.997 | D | 0.482 | neutral | None | None | None | None | N |
| Q/T | 0.1579 | likely_benign | 0.1772 | benign | -0.606 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| Q/V | 0.2054 | likely_benign | 0.2258 | benign | 0.137 | Stabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| Q/W | 0.6357 | likely_pathogenic | 0.7073 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.4193 | ambiguous | 0.4906 | ambiguous | 0.192 | Stabilizing | 0.999 | D | 0.719 | prob.delet. | 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.