Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25410 | 76453;76454;76455 | chr2:178569904;178569903;178569902 | chr2:179434631;179434630;179434629 |
| N2AB | 23769 | 71530;71531;71532 | chr2:178569904;178569903;178569902 | chr2:179434631;179434630;179434629 |
| N2A | 22842 | 68749;68750;68751 | chr2:178569904;178569903;178569902 | chr2:179434631;179434630;179434629 |
| N2B | 16345 | 49258;49259;49260 | chr2:178569904;178569903;178569902 | chr2:179434631;179434630;179434629 |
| Novex-1 | 16470 | 49633;49634;49635 | chr2:178569904;178569903;178569902 | chr2:179434631;179434630;179434629 |
| Novex-2 | 16537 | 49834;49835;49836 | chr2:178569904;178569903;178569902 | chr2:179434631;179434630;179434629 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs749561648  |
-0.545 | 0.981 | N | 0.509 | 0.211 | 0.36893422563 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| N/D | rs749561648 |
-0.545 | 0.981 | N | 0.509 | 0.211 | 0.36893422563 | gnomAD-4.0.0 | 1.16341E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52929E-05 | 0 | 0 |
| N/I | rs397517706 |
0.353 | 0.056 | N | 0.559 | 0.246 | 0.592484638094 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/I | rs397517706 |
0.353 | 0.056 | N | 0.559 | 0.246 | 0.592484638094 | gnomAD-4.0.0 | 4.77622E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29984E-05 | 0 |
| N/K | None | None | 0.983 | N | 0.661 | 0.258 | 0.263140351381 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1508 | likely_benign | 0.156 | benign | -0.634 | Destabilizing | 0.916 | D | 0.696 | prob.neutral | None | None | None | None | N |
| N/C | 0.1423 | likely_benign | 0.1454 | benign | 0.195 | Stabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| N/D | 0.309 | likely_benign | 0.3083 | benign | -0.319 | Destabilizing | 0.981 | D | 0.509 | neutral | N | 0.465647181 | None | None | N |
| N/E | 0.5949 | likely_pathogenic | 0.6142 | pathogenic | -0.259 | Destabilizing | 0.996 | D | 0.663 | neutral | None | None | None | None | N |
| N/F | 0.4416 | ambiguous | 0.4641 | ambiguous | -0.518 | Destabilizing | 0.975 | D | 0.847 | deleterious | None | None | None | None | N |
| N/G | 0.1879 | likely_benign | 0.1848 | benign | -0.945 | Destabilizing | 0.957 | D | 0.497 | neutral | None | None | None | None | N |
| N/H | 0.1187 | likely_benign | 0.118 | benign | -0.893 | Destabilizing | 0.994 | D | 0.69 | prob.neutral | N | 0.451197804 | None | None | N |
| N/I | 0.1386 | likely_benign | 0.1521 | benign | 0.138 | Stabilizing | 0.056 | N | 0.559 | neutral | N | 0.492391066 | None | None | N |
| N/K | 0.4466 | ambiguous | 0.4737 | ambiguous | -0.27 | Destabilizing | 0.983 | D | 0.661 | neutral | N | 0.459854573 | None | None | N |
| N/L | 0.1875 | likely_benign | 0.2009 | benign | 0.138 | Stabilizing | 0.653 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/M | 0.2584 | likely_benign | 0.2816 | benign | 0.548 | Stabilizing | 0.993 | D | 0.829 | deleterious | None | None | None | None | N |
| N/P | 0.7163 | likely_pathogenic | 0.7473 | pathogenic | -0.089 | Destabilizing | 0.996 | D | 0.839 | deleterious | None | None | None | None | N |
| N/Q | 0.3589 | ambiguous | 0.3779 | ambiguous | -0.738 | Destabilizing | 0.996 | D | 0.706 | prob.neutral | None | None | None | None | N |
| N/R | 0.4203 | ambiguous | 0.437 | ambiguous | -0.362 | Destabilizing | 0.996 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/S | 0.0626 | likely_benign | 0.0629 | benign | -0.685 | Destabilizing | 0.944 | D | 0.479 | neutral | N | 0.410060471 | None | None | N |
| N/T | 0.0948 | likely_benign | 0.1012 | benign | -0.445 | Destabilizing | 0.892 | D | 0.558 | neutral | N | 0.423797772 | None | None | N |
| N/V | 0.1311 | likely_benign | 0.1353 | benign | -0.089 | Destabilizing | 0.653 | D | 0.74 | deleterious | None | None | None | None | N |
| N/W | 0.7612 | likely_pathogenic | 0.768 | pathogenic | -0.364 | Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
| N/Y | 0.1507 | likely_benign | 0.1578 | benign | -0.153 | Destabilizing | 0.983 | D | 0.843 | deleterious | N | 0.469495563 | 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.