Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22392 | 67399;67400;67401 | chr2:178580113;178580112;178580111 | chr2:179444840;179444839;179444838 |
| N2AB | 20751 | 62476;62477;62478 | chr2:178580113;178580112;178580111 | chr2:179444840;179444839;179444838 |
| N2A | 19824 | 59695;59696;59697 | chr2:178580113;178580112;178580111 | chr2:179444840;179444839;179444838 |
| N2B | 13327 | 40204;40205;40206 | chr2:178580113;178580112;178580111 | chr2:179444840;179444839;179444838 |
| Novex-1 | 13452 | 40579;40580;40581 | chr2:178580113;178580112;178580111 | chr2:179444840;179444839;179444838 |
| Novex-2 | 13519 | 40780;40781;40782 | chr2:178580113;178580112;178580111 | chr2:179444840;179444839;179444838 |
| 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/R | rs753314830  |
-0.777 | None | N | 0.253 | 0.166 | 0.181679512989 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11582E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/R | rs753314830 |
-0.777 | None | N | 0.253 | 0.166 | 0.181679512989 | gnomAD-4.0.0 | 6.84371E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52131E-05 | None | 0 | 1.73671E-04 | 8.99669E-07 | 8.11651E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.524 | ambiguous | 0.5373 | ambiguous | -1.753 | Destabilizing | 0.004 | N | 0.465 | neutral | None | None | None | None | N |
| Q/C | 0.9399 | likely_pathogenic | 0.9305 | pathogenic | -0.824 | Destabilizing | 0.788 | D | 0.647 | neutral | None | None | None | None | N |
| Q/D | 0.7469 | likely_pathogenic | 0.7459 | pathogenic | -2.247 | Highly Destabilizing | 0.002 | N | 0.411 | neutral | None | None | None | None | N |
| Q/E | 0.0424 | likely_benign | 0.0479 | benign | -1.907 | Destabilizing | None | N | 0.184 | neutral | N | 0.330196965 | None | None | N |
| Q/F | 0.9803 | likely_pathogenic | 0.9801 | pathogenic | -1.145 | Destabilizing | 0.497 | N | 0.635 | neutral | None | None | None | None | N |
| Q/G | 0.7224 | likely_pathogenic | 0.7177 | pathogenic | -2.177 | Highly Destabilizing | 0.018 | N | 0.559 | neutral | None | None | None | None | N |
| Q/H | 0.8537 | likely_pathogenic | 0.8389 | pathogenic | -1.464 | Destabilizing | 0.196 | N | 0.564 | neutral | N | 0.519905741 | None | None | N |
| Q/I | 0.8719 | likely_pathogenic | 0.8906 | pathogenic | -0.551 | Destabilizing | 0.085 | N | 0.606 | neutral | None | None | None | None | N |
| Q/K | 0.76 | likely_pathogenic | 0.7788 | pathogenic | -0.616 | Destabilizing | 0.001 | N | 0.398 | neutral | N | 0.497874243 | None | None | N |
| Q/L | 0.5756 | likely_pathogenic | 0.6145 | pathogenic | -0.551 | Destabilizing | 0.014 | N | 0.575 | neutral | N | 0.501146622 | None | None | N |
| Q/M | 0.6188 | likely_pathogenic | 0.6436 | pathogenic | -0.565 | Destabilizing | 0.497 | N | 0.565 | neutral | None | None | None | None | N |
| Q/N | 0.7535 | likely_pathogenic | 0.7404 | pathogenic | -1.392 | Destabilizing | 0.018 | N | 0.462 | neutral | None | None | None | None | N |
| Q/P | 0.9945 | likely_pathogenic | 0.9949 | pathogenic | -0.935 | Destabilizing | 0.028 | N | 0.526 | neutral | N | 0.496451706 | None | None | N |
| Q/R | 0.8088 | likely_pathogenic | 0.8163 | pathogenic | -0.828 | Destabilizing | None | N | 0.253 | neutral | N | 0.501645267 | None | None | N |
| Q/S | 0.5085 | ambiguous | 0.5074 | ambiguous | -1.759 | Destabilizing | 0.004 | N | 0.407 | neutral | None | None | None | None | N |
| Q/T | 0.6926 | likely_pathogenic | 0.6977 | pathogenic | -1.257 | Destabilizing | 0.018 | N | 0.527 | neutral | None | None | None | None | N |
| Q/V | 0.7265 | likely_pathogenic | 0.751 | pathogenic | -0.935 | Destabilizing | 0.018 | N | 0.563 | neutral | None | None | None | None | N |
| Q/W | 0.9858 | likely_pathogenic | 0.9861 | pathogenic | -1.195 | Destabilizing | 0.788 | D | 0.625 | neutral | None | None | None | None | N |
| Q/Y | 0.9566 | likely_pathogenic | 0.9529 | pathogenic | -0.838 | Destabilizing | 0.22 | N | 0.583 | 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.