Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9658 | 29197;29198;29199 | chr2:178707595;178707594;178707593 | chr2:179572322;179572321;179572320 |
| N2AB | 9341 | 28246;28247;28248 | chr2:178707595;178707594;178707593 | chr2:179572322;179572321;179572320 |
| N2A | 8414 | 25465;25466;25467 | chr2:178707595;178707594;178707593 | chr2:179572322;179572321;179572320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1413237193  |
None | 1.0 | None | 0.833 | 0.806 | 0.893681763541 | 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 |
| G/R | rs1413237193 |
None | 1.0 | None | 0.833 | 0.806 | 0.893681763541 | gnomAD-4.0.0 | 2.56197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78528E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4455 | ambiguous | 0.3391 | benign | -0.696 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/C | 0.8539 | likely_pathogenic | 0.7538 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/D | 0.8697 | likely_pathogenic | 0.8038 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/E | 0.9113 | likely_pathogenic | 0.8406 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/F | 0.9826 | likely_pathogenic | 0.9616 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/H | 0.9747 | likely_pathogenic | 0.9505 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/I | 0.9678 | likely_pathogenic | 0.927 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/K | 0.9704 | likely_pathogenic | 0.9356 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/L | 0.9536 | likely_pathogenic | 0.9088 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/M | 0.9704 | likely_pathogenic | 0.9402 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/N | 0.901 | likely_pathogenic | 0.8535 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/P | 0.9957 | likely_pathogenic | 0.9941 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/Q | 0.9182 | likely_pathogenic | 0.8628 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/R | 0.9155 | likely_pathogenic | 0.835 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/S | 0.3507 | ambiguous | 0.2677 | benign | -1.067 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/T | 0.8129 | likely_pathogenic | 0.7116 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.9139 | likely_pathogenic | 0.8324 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/W | 0.97 | likely_pathogenic | 0.9405 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/Y | 0.9809 | likely_pathogenic | 0.9594 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.751 | deleterious | 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.