Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34220 | 102883;102884;102885 | chr2:178533957;178533956;178533955 | chr2:179398684;179398683;179398682 |
| N2AB | 32579 | 97960;97961;97962 | chr2:178533957;178533956;178533955 | chr2:179398684;179398683;179398682 |
| N2A | 31652 | 95179;95180;95181 | chr2:178533957;178533956;178533955 | chr2:179398684;179398683;179398682 |
| N2B | 25155 | 75688;75689;75690 | chr2:178533957;178533956;178533955 | chr2:179398684;179398683;179398682 |
| Novex-1 | 25280 | 76063;76064;76065 | chr2:178533957;178533956;178533955 | chr2:179398684;179398683;179398682 |
| Novex-2 | 25347 | 76264;76265;76266 | chr2:178533957;178533956;178533955 | chr2:179398684;179398683;179398682 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs763863092  |
-0.825 | 0.122 | N | 0.327 | 0.222 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 1.65317E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/A | rs763863092 |
-0.825 | 0.122 | N | 0.327 | 0.222 | None | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | I | None | 2.17108E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | rs763863092 |
-0.825 | 0.122 | N | 0.327 | 0.222 | None | gnomAD-4.0.0 | 1.53713E-05 | None | None | None | None | I | None | 2.02895E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.127 | likely_benign | 0.1253 | benign | -1.034 | Destabilizing | 0.122 | N | 0.327 | neutral | N | 0.42094476 | None | None | I |
| S/C | 0.2816 | likely_benign | 0.318 | benign | -0.666 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.433319411 | None | None | I |
| S/D | 0.9131 | likely_pathogenic | 0.9221 | pathogenic | -0.943 | Destabilizing | 0.985 | D | 0.723 | prob.delet. | None | None | None | None | I |
| S/E | 0.9369 | likely_pathogenic | 0.9487 | pathogenic | -0.842 | Destabilizing | 0.985 | D | 0.685 | prob.neutral | None | None | None | None | I |
| S/F | 0.812 | likely_pathogenic | 0.8249 | pathogenic | -1.082 | Destabilizing | 0.998 | D | 0.796 | deleterious | N | 0.490620762 | None | None | I |
| S/G | 0.3036 | likely_benign | 0.2951 | benign | -1.353 | Destabilizing | 0.871 | D | 0.683 | prob.neutral | None | None | None | None | I |
| S/H | 0.857 | likely_pathogenic | 0.8706 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| S/I | 0.7025 | likely_pathogenic | 0.7244 | pathogenic | -0.251 | Destabilizing | 0.996 | D | 0.781 | deleterious | None | None | None | None | I |
| S/K | 0.9806 | likely_pathogenic | 0.9847 | pathogenic | -0.449 | Destabilizing | 0.97 | D | 0.687 | prob.neutral | None | None | None | None | I |
| S/L | 0.5118 | ambiguous | 0.5413 | ambiguous | -0.251 | Destabilizing | 0.97 | D | 0.738 | prob.delet. | None | None | None | None | I |
| S/M | 0.7131 | likely_pathogenic | 0.7372 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| S/N | 0.6484 | likely_pathogenic | 0.6805 | pathogenic | -0.804 | Destabilizing | 0.995 | D | 0.711 | prob.delet. | None | None | None | None | I |
| S/P | 0.9776 | likely_pathogenic | 0.9778 | pathogenic | -0.479 | Destabilizing | 0.994 | D | 0.802 | deleterious | N | 0.490874251 | None | None | I |
| S/Q | 0.9054 | likely_pathogenic | 0.9175 | pathogenic | -0.815 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | I |
| S/R | 0.9548 | likely_pathogenic | 0.9616 | pathogenic | -0.547 | Destabilizing | 0.996 | D | 0.793 | deleterious | None | None | None | None | I |
| S/T | 0.2125 | likely_benign | 0.2333 | benign | -0.688 | Destabilizing | 0.91 | D | 0.661 | neutral | N | 0.466661194 | None | None | I |
| S/V | 0.5917 | likely_pathogenic | 0.6237 | pathogenic | -0.479 | Destabilizing | 0.97 | D | 0.755 | deleterious | None | None | None | None | I |
| S/W | 0.9123 | likely_pathogenic | 0.9159 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| S/Y | 0.7484 | likely_pathogenic | 0.762 | pathogenic | -0.79 | Destabilizing | 0.998 | D | 0.801 | deleterious | N | 0.490874251 | None | None | I |
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.