Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5971 | 18136;18137;18138 | chr2:178730622;178730621;178730620 | chr2:179595349;179595348;179595347 |
| N2AB | 5654 | 17185;17186;17187 | chr2:178730622;178730621;178730620 | chr2:179595349;179595348;179595347 |
| N2A | 4727 | 14404;14405;14406 | chr2:178730622;178730621;178730620 | chr2:179595349;179595348;179595347 |
| 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/G | rs750122705  |
-0.306 | 0.989 | N | 0.387 | 0.333 | 0.223847106136 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| D/G | rs750122705 |
-0.306 | 0.989 | N | 0.387 | 0.333 | 0.223847106136 | gnomAD-4.0.0 | 9.54927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.59623E-05 | 0 |
| D/N | rs762806572 |
0.005 | 0.989 | N | 0.325 | 0.291 | 0.261217442401 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.45E-05 | 0 |
| D/N | rs762806572 |
0.005 | 0.989 | N | 0.325 | 0.291 | 0.261217442401 | 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/N | rs762806572 |
0.005 | 0.989 | N | 0.325 | 0.291 | 0.261217442401 | gnomAD-4.0.0 | 1.15325E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.15419E-05 | 0 | 0 |
| D/V | rs750122705 |
0.072 | 0.997 | N | 0.501 | 0.54 | 0.464698922459 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs750122705 |
0.072 | 0.997 | N | 0.501 | 0.54 | 0.464698922459 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs750122705 |
0.072 | 0.997 | N | 0.501 | 0.54 | 0.464698922459 | gnomAD-4.0.0 | 3.84386E-06 | None | None | None | None | N | None | 0 | 5.08613E-05 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4237 | ambiguous | 0.5319 | ambiguous | -0.249 | Destabilizing | 0.978 | D | 0.387 | neutral | N | 0.454401894 | None | None | N |
| D/C | 0.8579 | likely_pathogenic | 0.9118 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.576 | neutral | None | None | None | None | N |
| D/E | 0.2444 | likely_benign | 0.2871 | benign | -0.134 | Destabilizing | 0.198 | N | 0.219 | neutral | N | 0.420653105 | None | None | N |
| D/F | 0.8763 | likely_pathogenic | 0.9278 | pathogenic | -0.178 | Destabilizing | 0.999 | D | 0.499 | neutral | None | None | None | None | N |
| D/G | 0.2464 | likely_benign | 0.3424 | ambiguous | -0.42 | Destabilizing | 0.989 | D | 0.387 | neutral | N | 0.477252963 | None | None | N |
| D/H | 0.5473 | ambiguous | 0.6613 | pathogenic | 0.234 | Stabilizing | 1.0 | D | 0.339 | neutral | N | 0.465860332 | None | None | N |
| D/I | 0.8087 | likely_pathogenic | 0.8852 | pathogenic | 0.152 | Stabilizing | 0.999 | D | 0.507 | neutral | None | None | None | None | N |
| D/K | 0.6256 | likely_pathogenic | 0.7358 | pathogenic | 0.118 | Stabilizing | 0.983 | D | 0.375 | neutral | None | None | None | None | N |
| D/L | 0.7479 | likely_pathogenic | 0.8288 | pathogenic | 0.152 | Stabilizing | 0.998 | D | 0.507 | neutral | None | None | None | None | N |
| D/M | 0.8803 | likely_pathogenic | 0.9248 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.529 | neutral | None | None | None | None | N |
| D/N | 0.1718 | likely_benign | 0.2169 | benign | -0.03 | Destabilizing | 0.989 | D | 0.325 | neutral | N | 0.492649277 | None | None | N |
| D/P | 0.9202 | likely_pathogenic | 0.956 | pathogenic | 0.039 | Stabilizing | 0.999 | D | 0.335 | neutral | None | None | None | None | N |
| D/Q | 0.5558 | ambiguous | 0.6522 | pathogenic | -0.003 | Destabilizing | 0.995 | D | 0.289 | neutral | None | None | None | None | N |
| D/R | 0.6284 | likely_pathogenic | 0.7356 | pathogenic | 0.425 | Stabilizing | 0.995 | D | 0.427 | neutral | None | None | None | None | N |
| D/S | 0.253 | likely_benign | 0.3343 | benign | -0.209 | Destabilizing | 0.983 | D | 0.337 | neutral | None | None | None | None | N |
| D/T | 0.5888 | likely_pathogenic | 0.6983 | pathogenic | -0.078 | Destabilizing | 0.998 | D | 0.317 | neutral | None | None | None | None | N |
| D/V | 0.6189 | likely_pathogenic | 0.7434 | pathogenic | 0.039 | Stabilizing | 0.997 | D | 0.501 | neutral | N | 0.484471566 | None | None | N |
| D/W | 0.9582 | likely_pathogenic | 0.9761 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | N |
| D/Y | 0.5198 | ambiguous | 0.6518 | pathogenic | 0.048 | Stabilizing | 0.999 | D | 0.499 | neutral | N | 0.467848568 | 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.