Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16121 | 48586;48587;48588 | chr2:178615740;178615739;178615738 | chr2:179480467;179480466;179480465 |
| N2AB | 14480 | 43663;43664;43665 | chr2:178615740;178615739;178615738 | chr2:179480467;179480466;179480465 |
| N2A | 13553 | 40882;40883;40884 | chr2:178615740;178615739;178615738 | chr2:179480467;179480466;179480465 |
| N2B | 7056 | 21391;21392;21393 | chr2:178615740;178615739;178615738 | chr2:179480467;179480466;179480465 |
| Novex-1 | 7181 | 21766;21767;21768 | chr2:178615740;178615739;178615738 | chr2:179480467;179480466;179480465 |
| Novex-2 | 7248 | 21967;21968;21969 | chr2:178615740;178615739;178615738 | chr2:179480467;179480466;179480465 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs779364355  |
-0.178 | 0.021 | N | 0.101 | 0.152 | 0.200317383148 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.68577E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs779364355 |
-0.178 | 0.021 | N | 0.101 | 0.152 | 0.200317383148 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95008E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs779364355 |
-0.178 | 0.021 | N | 0.101 | 0.152 | 0.200317383148 | gnomAD-4.0.0 | 1.79758E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.1678E-04 | None | 0 | 0 | 0 | 0 | 2.85063E-05 |
| Q/H | None | None | 0.996 | N | 0.407 | 0.303 | 0.328752806141 | gnomAD-4.0.0 | 1.59477E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78458E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1333 | likely_benign | 0.147 | benign | -0.375 | Destabilizing | 0.863 | D | 0.35 | neutral | None | None | None | None | N |
| Q/C | 0.5709 | likely_pathogenic | 0.6356 | pathogenic | 0.17 | Stabilizing | 0.999 | D | 0.511 | neutral | None | None | None | None | N |
| Q/D | 0.4295 | ambiguous | 0.4907 | ambiguous | -0.178 | Destabilizing | 0.759 | D | 0.421 | neutral | None | None | None | None | N |
| Q/E | 0.0794 | likely_benign | 0.0851 | benign | -0.19 | Destabilizing | 0.021 | N | 0.101 | neutral | N | 0.381240922 | None | None | N |
| Q/F | 0.6667 | likely_pathogenic | 0.7089 | pathogenic | -0.442 | Destabilizing | 0.997 | D | 0.482 | neutral | None | None | None | None | N |
| Q/G | 0.2903 | likely_benign | 0.3312 | benign | -0.604 | Destabilizing | 0.969 | D | 0.435 | neutral | None | None | None | None | N |
| Q/H | 0.2373 | likely_benign | 0.2722 | benign | -0.532 | Destabilizing | 0.996 | D | 0.407 | neutral | N | 0.481193266 | None | None | N |
| Q/I | 0.3127 | likely_benign | 0.3397 | benign | 0.153 | Stabilizing | 0.997 | D | 0.487 | neutral | None | None | None | None | N |
| Q/K | 0.116 | likely_benign | 0.128 | benign | -0.111 | Destabilizing | 0.826 | D | 0.481 | neutral | N | 0.475906793 | None | None | N |
| Q/L | 0.1325 | likely_benign | 0.1471 | benign | 0.153 | Stabilizing | 0.959 | D | 0.443 | neutral | N | 0.480487557 | None | None | N |
| Q/M | 0.3017 | likely_benign | 0.329 | benign | 0.508 | Stabilizing | 0.997 | D | 0.389 | neutral | None | None | None | None | N |
| Q/N | 0.303 | likely_benign | 0.3593 | ambiguous | -0.411 | Destabilizing | 0.969 | D | 0.418 | neutral | None | None | None | None | N |
| Q/P | 0.0797 | likely_benign | 0.0857 | benign | 0.007 | Stabilizing | 0.996 | D | 0.404 | neutral | N | 0.354903069 | None | None | N |
| Q/R | 0.1251 | likely_benign | 0.1348 | benign | 0.062 | Stabilizing | 0.92 | D | 0.46 | neutral | N | 0.48146409 | None | None | N |
| Q/S | 0.1996 | likely_benign | 0.2259 | benign | -0.423 | Destabilizing | 0.863 | D | 0.398 | neutral | None | None | None | None | N |
| Q/T | 0.1809 | likely_benign | 0.2048 | benign | -0.274 | Destabilizing | 0.969 | D | 0.393 | neutral | None | None | None | None | N |
| Q/V | 0.1887 | likely_benign | 0.2073 | benign | 0.007 | Stabilizing | 0.969 | D | 0.468 | neutral | None | None | None | None | N |
| Q/W | 0.5843 | likely_pathogenic | 0.6263 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.489 | neutral | None | None | None | None | N |
| Q/Y | 0.4792 | ambiguous | 0.529 | ambiguous | -0.152 | Destabilizing | 0.997 | D | 0.419 | neutral | 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.