Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35185 | 105778;105779;105780 | chr2:178531062;178531061;178531060 | chr2:179395789;179395788;179395787 |
| N2AB | 33544 | 100855;100856;100857 | chr2:178531062;178531061;178531060 | chr2:179395789;179395788;179395787 |
| N2A | 32617 | 98074;98075;98076 | chr2:178531062;178531061;178531060 | chr2:179395789;179395788;179395787 |
| N2B | 26120 | 78583;78584;78585 | chr2:178531062;178531061;178531060 | chr2:179395789;179395788;179395787 |
| Novex-1 | 26245 | 78958;78959;78960 | chr2:178531062;178531061;178531060 | chr2:179395789;179395788;179395787 |
| Novex-2 | 26312 | 79159;79160;79161 | chr2:178531062;178531061;178531060 | chr2:179395789;179395788;179395787 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1688904998  |
None | 0.877 | N | 0.483 | 0.307 | 0.355450299083 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| T/A | rs1688904998 |
None | 0.877 | N | 0.483 | 0.307 | 0.355450299083 | gnomAD-4.0.0 | 3.84275E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02037E-05 | 0 |
| T/I | rs781567438 |
-0.159 | 0.996 | N | 0.713 | 0.459 | 0.483224754729 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| T/I | rs781567438 |
-0.159 | 0.996 | N | 0.713 | 0.459 | 0.483224754729 | gnomAD-4.0.0 | 1.36828E-06 | None | None | None | None | N | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 8.99391E-07 | 0 | 0 |
| T/N | None | None | 0.992 | N | 0.636 | 0.362 | 0.443695250439 | gnomAD-4.0.0 | 6.84138E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1534 | likely_benign | 0.1429 | benign | -1.195 | Destabilizing | 0.877 | D | 0.483 | neutral | N | 0.515554006 | None | None | N |
| T/C | 0.7034 | likely_pathogenic | 0.6694 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| T/D | 0.6801 | likely_pathogenic | 0.6476 | pathogenic | -1.789 | Destabilizing | 0.994 | D | 0.669 | neutral | None | None | None | None | N |
| T/E | 0.6268 | likely_pathogenic | 0.5695 | pathogenic | -1.621 | Destabilizing | 0.994 | D | 0.667 | neutral | None | None | None | None | N |
| T/F | 0.4187 | ambiguous | 0.3834 | ambiguous | -0.983 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| T/G | 0.5726 | likely_pathogenic | 0.5538 | ambiguous | -1.574 | Destabilizing | 0.979 | D | 0.585 | neutral | None | None | None | None | N |
| T/H | 0.4507 | ambiguous | 0.39 | ambiguous | -1.745 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/I | 0.2237 | likely_benign | 0.2033 | benign | -0.215 | Destabilizing | 0.996 | D | 0.713 | prob.delet. | N | 0.495314806 | None | None | N |
| T/K | 0.5499 | ambiguous | 0.4747 | ambiguous | -0.756 | Destabilizing | 0.994 | D | 0.669 | neutral | None | None | None | None | N |
| T/L | 0.1784 | likely_benign | 0.1654 | benign | -0.215 | Destabilizing | 0.989 | D | 0.58 | neutral | None | None | None | None | N |
| T/M | 0.1626 | likely_benign | 0.1412 | benign | -0.141 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/N | 0.2958 | likely_benign | 0.2682 | benign | -1.419 | Destabilizing | 0.992 | D | 0.636 | neutral | N | 0.512033698 | None | None | N |
| T/P | 0.7822 | likely_pathogenic | 0.7898 | pathogenic | -0.511 | Destabilizing | 0.996 | D | 0.713 | prob.delet. | N | 0.511312818 | None | None | N |
| T/Q | 0.4851 | ambiguous | 0.4195 | ambiguous | -1.298 | Destabilizing | 0.997 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/R | 0.4035 | ambiguous | 0.3341 | benign | -0.84 | Destabilizing | 0.997 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/S | 0.1804 | likely_benign | 0.1669 | benign | -1.583 | Destabilizing | 0.573 | D | 0.307 | neutral | N | 0.40428737 | None | None | N |
| T/V | 0.1855 | likely_benign | 0.1737 | benign | -0.511 | Destabilizing | 0.989 | D | 0.563 | neutral | None | None | None | None | N |
| T/W | 0.8109 | likely_pathogenic | 0.7688 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/Y | 0.5149 | ambiguous | 0.454 | ambiguous | -0.752 | Destabilizing | 0.999 | D | 0.785 | 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.