Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21112 | 63559;63560;63561 | chr2:178588073;178588072;178588071 | chr2:179452800;179452799;179452798 |
| N2AB | 19471 | 58636;58637;58638 | chr2:178588073;178588072;178588071 | chr2:179452800;179452799;179452798 |
| N2A | 18544 | 55855;55856;55857 | chr2:178588073;178588072;178588071 | chr2:179452800;179452799;179452798 |
| N2B | 12047 | 36364;36365;36366 | chr2:178588073;178588072;178588071 | chr2:179452800;179452799;179452798 |
| Novex-1 | 12172 | 36739;36740;36741 | chr2:178588073;178588072;178588071 | chr2:179452800;179452799;179452798 |
| Novex-2 | 12239 | 36940;36941;36942 | chr2:178588073;178588072;178588071 | chr2:179452800;179452799;179452798 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs758801950  |
-0.333 | 1.0 | N | 0.806 | 0.424 | 0.602534368506 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| P/L | rs758801950 |
-0.333 | 1.0 | N | 0.806 | 0.424 | 0.602534368506 | gnomAD-4.0.0 | 4.79173E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02849E-05 | 0 | 4.97282E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0568 | likely_benign | 0.0574 | benign | -0.404 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.471850796 | None | None | N |
| P/C | 0.3615 | ambiguous | 0.3664 | ambiguous | -0.585 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/D | 0.221 | likely_benign | 0.2326 | benign | -0.246 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| P/E | 0.1505 | likely_benign | 0.1563 | benign | -0.365 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| P/F | 0.3233 | likely_benign | 0.3218 | benign | -0.676 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/G | 0.1525 | likely_benign | 0.1619 | benign | -0.512 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/H | 0.132 | likely_benign | 0.1299 | benign | -0.027 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.479003605 | None | None | N |
| P/I | 0.1796 | likely_benign | 0.1713 | benign | -0.271 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/K | 0.1354 | likely_benign | 0.1338 | benign | -0.337 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| P/L | 0.0913 | likely_benign | 0.0912 | benign | -0.271 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.505387366 | None | None | N |
| P/M | 0.1917 | likely_benign | 0.1898 | benign | -0.371 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/N | 0.1872 | likely_benign | 0.1922 | benign | -0.076 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/Q | 0.1009 | likely_benign | 0.0995 | benign | -0.327 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| P/R | 0.1174 | likely_benign | 0.1114 | benign | 0.193 | Stabilizing | 1.0 | D | 0.807 | deleterious | N | 0.477989647 | None | None | N |
| P/S | 0.0814 | likely_benign | 0.0807 | benign | -0.426 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.492130068 | None | None | N |
| P/T | 0.0695 | likely_benign | 0.0699 | benign | -0.447 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.518025803 | None | None | N |
| P/V | 0.1178 | likely_benign | 0.1157 | benign | -0.282 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/W | 0.4588 | ambiguous | 0.4603 | ambiguous | -0.737 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/Y | 0.314 | likely_benign | 0.3117 | benign | -0.443 | Destabilizing | 1.0 | D | 0.821 | 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.