Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22236 | 66931;66932;66933 | chr2:178581562;178581561;178581560 | chr2:179446289;179446288;179446287 |
| N2AB | 20595 | 62008;62009;62010 | chr2:178581562;178581561;178581560 | chr2:179446289;179446288;179446287 |
| N2A | 19668 | 59227;59228;59229 | chr2:178581562;178581561;178581560 | chr2:179446289;179446288;179446287 |
| N2B | 13171 | 39736;39737;39738 | chr2:178581562;178581561;178581560 | chr2:179446289;179446288;179446287 |
| Novex-1 | 13296 | 40111;40112;40113 | chr2:178581562;178581561;178581560 | chr2:179446289;179446288;179446287 |
| Novex-2 | 13363 | 40312;40313;40314 | chr2:178581562;178581561;178581560 | chr2:179446289;179446288;179446287 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs771424887  |
-1.556 | 0.999 | N | 0.6 | 0.639 | 0.301455362545 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| N/S | rs771424887 |
-1.556 | 0.999 | N | 0.6 | 0.639 | 0.301455362545 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs771424887 |
-1.556 | 0.999 | N | 0.6 | 0.639 | 0.301455362545 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47093E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| N/C | 0.9542 | likely_pathogenic | 0.9593 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| N/D | 0.9934 | likely_pathogenic | 0.9949 | pathogenic | -2.188 | Highly Destabilizing | 0.999 | D | 0.613 | neutral | D | 0.559909185 | None | None | N |
| N/E | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -1.975 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| N/G | 0.9855 | likely_pathogenic | 0.9877 | pathogenic | -1.536 | Destabilizing | 0.999 | D | 0.582 | neutral | None | None | None | None | N |
| N/H | 0.987 | likely_pathogenic | 0.9907 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.560923144 | None | None | N |
| N/I | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.561430123 | None | None | N |
| N/K | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.560162675 | None | None | N |
| N/L | 0.9879 | likely_pathogenic | 0.9915 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| N/M | 0.9968 | likely_pathogenic | 0.9977 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/P | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/Q | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| N/R | 0.9972 | likely_pathogenic | 0.9983 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/S | 0.8068 | likely_pathogenic | 0.8208 | pathogenic | -1.408 | Destabilizing | 0.999 | D | 0.6 | neutral | N | 0.515076167 | None | None | N |
| N/T | 0.9764 | likely_pathogenic | 0.9793 | pathogenic | -1.04 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | N | 0.519084957 | None | None | N |
| N/V | 0.9969 | likely_pathogenic | 0.9977 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| N/Y | 0.9971 | likely_pathogenic | 0.9981 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.561176633 | 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.