Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5625 | 17098;17099;17100 | chr2:178732096;178732095;178732094 | chr2:179596823;179596822;179596821 |
| N2AB | 5308 | 16147;16148;16149 | chr2:178732096;178732095;178732094 | chr2:179596823;179596822;179596821 |
| N2A | 4381 | 13366;13367;13368 | chr2:178732096;178732095;178732094 | chr2:179596823;179596822;179596821 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs794729612  |
None | 0.999 | N | 0.541 | 0.226 | 0.441118900842 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs746590786 |
0.351 | 0.884 | N | 0.57 | 0.328 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.14E-05 | 0 |
| D/V | rs746590786 |
0.351 | 0.884 | N | 0.57 | 0.328 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/V | rs746590786 |
0.351 | 0.884 | N | 0.57 | 0.328 | None | gnomAD-4.0.0 | 2.85399E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.90337E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1839 | likely_benign | 0.1732 | benign | -0.403 | Destabilizing | 0.996 | D | 0.749 | deleterious | N | 0.403783151 | None | None | N |
| D/C | 0.7078 | likely_pathogenic | 0.6878 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| D/E | 0.2914 | likely_benign | 0.2742 | benign | -0.826 | Destabilizing | 0.999 | D | 0.541 | neutral | N | 0.500619052 | None | None | N |
| D/F | 0.7237 | likely_pathogenic | 0.6869 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| D/G | 0.2318 | likely_benign | 0.2225 | benign | -0.747 | Destabilizing | 0.999 | D | 0.755 | deleterious | N | 0.496203396 | None | None | N |
| D/H | 0.451 | ambiguous | 0.3998 | ambiguous | -0.666 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.49916591 | None | None | N |
| D/I | 0.4969 | ambiguous | 0.4598 | ambiguous | 0.496 | Stabilizing | 0.998 | D | 0.787 | deleterious | None | None | None | None | N |
| D/K | 0.5517 | ambiguous | 0.4906 | ambiguous | -0.568 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/L | 0.5584 | ambiguous | 0.5304 | ambiguous | 0.496 | Stabilizing | 0.998 | D | 0.8 | deleterious | None | None | None | None | N |
| D/M | 0.7363 | likely_pathogenic | 0.7256 | pathogenic | 0.941 | Stabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| D/N | 0.1348 | likely_benign | 0.1305 | benign | -0.852 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.533712905 | None | None | N |
| D/P | 0.967 | likely_pathogenic | 0.9534 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/Q | 0.464 | ambiguous | 0.4199 | ambiguous | -0.713 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/R | 0.5483 | ambiguous | 0.4866 | ambiguous | -0.457 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| D/S | 0.1185 | likely_benign | 0.1155 | benign | -1.116 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/T | 0.3134 | likely_benign | 0.2953 | benign | -0.847 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| D/V | 0.3087 | likely_benign | 0.2818 | benign | 0.222 | Stabilizing | 0.884 | D | 0.57 | neutral | N | 0.480089064 | None | None | N |
| D/W | 0.9565 | likely_pathogenic | 0.9469 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/Y | 0.4025 | ambiguous | 0.3539 | ambiguous | -0.029 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.525917446 | 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.