Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22332 | 67219;67220;67221 | chr2:178580385;178580384;178580383 | chr2:179445112;179445111;179445110 |
| N2AB | 20691 | 62296;62297;62298 | chr2:178580385;178580384;178580383 | chr2:179445112;179445111;179445110 |
| N2A | 19764 | 59515;59516;59517 | chr2:178580385;178580384;178580383 | chr2:179445112;179445111;179445110 |
| N2B | 13267 | 40024;40025;40026 | chr2:178580385;178580384;178580383 | chr2:179445112;179445111;179445110 |
| Novex-1 | 13392 | 40399;40400;40401 | chr2:178580385;178580384;178580383 | chr2:179445112;179445111;179445110 |
| Novex-2 | 13459 | 40600;40601;40602 | chr2:178580385;178580384;178580383 | chr2:179445112;179445111;179445110 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1481543528  |
None | 1.0 | D | 0.828 | 0.884 | 0.864006174247 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86051E-06 | 0 | 0 |
| Y/H | None | None | 1.0 | D | 0.775 | 0.882 | 0.749761708737 | gnomAD-4.0.0 | 1.36885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73732E-04 | 8.99701E-07 | 0 | 0 |
| Y/S | rs1481543528 |
-2.972 | 1.0 | D | 0.855 | 0.866 | 0.885873051839 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/S | rs1481543528 |
-2.972 | 1.0 | D | 0.855 | 0.866 | 0.885873051839 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77701E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.44 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| Y/C | 0.9901 | likely_pathogenic | 0.9908 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.632296412 | None | None | N |
| Y/D | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.962 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.632296412 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.713 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| Y/F | 0.3657 | ambiguous | 0.358 | ambiguous | -0.864 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | D | 0.572035403 | None | None | N |
| Y/G | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -2.898 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| Y/H | 0.9923 | likely_pathogenic | 0.9929 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.632094608 | None | None | N |
| Y/I | 0.9798 | likely_pathogenic | 0.9793 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| Y/L | 0.9635 | likely_pathogenic | 0.9604 | pathogenic | -0.928 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| Y/M | 0.9908 | likely_pathogenic | 0.9902 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/N | 0.9933 | likely_pathogenic | 0.9941 | pathogenic | -3.16 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.632296412 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| Y/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.684 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| Y/R | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.443 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/S | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -3.497 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.632296412 | None | None | N |
| Y/T | 0.999 | likely_pathogenic | 0.999 | pathogenic | -3.1 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/V | 0.9783 | likely_pathogenic | 0.977 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| Y/W | 0.8905 | likely_pathogenic | 0.8925 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.773 | 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.