Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28985 | 87178;87179;87180 | chr2:178558506;178558505;178558504 | chr2:179423233;179423232;179423231 |
| N2AB | 27344 | 82255;82256;82257 | chr2:178558506;178558505;178558504 | chr2:179423233;179423232;179423231 |
| N2A | 26417 | 79474;79475;79476 | chr2:178558506;178558505;178558504 | chr2:179423233;179423232;179423231 |
| N2B | 19920 | 59983;59984;59985 | chr2:178558506;178558505;178558504 | chr2:179423233;179423232;179423231 |
| Novex-1 | 20045 | 60358;60359;60360 | chr2:178558506;178558505;178558504 | chr2:179423233;179423232;179423231 |
| Novex-2 | 20112 | 60559;60560;60561 | chr2:178558506;178558505;178558504 | chr2:179423233;179423232;179423231 |
| 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 | rs748946057  |
-0.432 | 1.0 | N | 0.629 | 0.449 | 0.565168447923 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs748946057 |
-0.432 | 1.0 | N | 0.629 | 0.449 | 0.565168447923 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs748946057 |
-0.432 | 1.0 | N | 0.629 | 0.449 | 0.565168447923 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 5.65291E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.249 | likely_benign | 0.2694 | benign | -0.322 | Destabilizing | 1.0 | D | 0.517 | neutral | D | 0.527122502 | None | None | N |
| G/C | 0.338 | likely_benign | 0.3742 | ambiguous | -0.998 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/D | 0.1633 | likely_benign | 0.1584 | benign | -0.794 | Destabilizing | 1.0 | D | 0.503 | neutral | None | None | None | None | N |
| G/E | 0.212 | likely_benign | 0.2205 | benign | -0.937 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.516846793 | None | None | N |
| G/F | 0.6534 | likely_pathogenic | 0.6968 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| G/H | 0.4229 | ambiguous | 0.4477 | ambiguous | -0.408 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| G/I | 0.4566 | ambiguous | 0.5096 | ambiguous | -0.474 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| G/K | 0.5375 | ambiguous | 0.5732 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.616 | neutral | None | None | None | None | N |
| G/L | 0.5595 | ambiguous | 0.607 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/M | 0.5674 | likely_pathogenic | 0.6078 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/N | 0.1946 | likely_benign | 0.1887 | benign | -0.614 | Destabilizing | 1.0 | D | 0.523 | neutral | None | None | None | None | N |
| G/P | 0.8961 | likely_pathogenic | 0.9039 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| G/Q | 0.357 | ambiguous | 0.3757 | ambiguous | -0.874 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| G/R | 0.4747 | ambiguous | 0.5173 | ambiguous | -0.46 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.478107189 | None | None | N |
| G/S | 0.1259 | likely_benign | 0.1296 | benign | -0.735 | Destabilizing | 1.0 | D | 0.541 | neutral | None | None | None | None | N |
| G/T | 0.2319 | likely_benign | 0.2475 | benign | -0.813 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| G/V | 0.3429 | ambiguous | 0.3906 | ambiguous | -0.394 | Destabilizing | 1.0 | D | 0.666 | neutral | N | 0.480362141 | None | None | N |
| G/W | 0.4987 | ambiguous | 0.5584 | ambiguous | -1.13 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| G/Y | 0.4963 | ambiguous | 0.5413 | ambiguous | -0.809 | Destabilizing | 1.0 | D | 0.665 | 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.