Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22241 | 66946;66947;66948 | chr2:178581547;178581546;178581545 | chr2:179446274;179446273;179446272 |
| N2AB | 20600 | 62023;62024;62025 | chr2:178581547;178581546;178581545 | chr2:179446274;179446273;179446272 |
| N2A | 19673 | 59242;59243;59244 | chr2:178581547;178581546;178581545 | chr2:179446274;179446273;179446272 |
| N2B | 13176 | 39751;39752;39753 | chr2:178581547;178581546;178581545 | chr2:179446274;179446273;179446272 |
| Novex-1 | 13301 | 40126;40127;40128 | chr2:178581547;178581546;178581545 | chr2:179446274;179446273;179446272 |
| Novex-2 | 13368 | 40327;40328;40329 | chr2:178581547;178581546;178581545 | chr2:179446274;179446273;179446272 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs778956602  |
-0.679 | 0.97 | N | 0.773 | 0.424 | 0.312608672186 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 8.95E-06 | 0 |
| S/R | rs778956602 |
-0.679 | 0.97 | N | 0.773 | 0.424 | 0.312608672186 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.93798E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs778956602 |
-0.679 | 0.97 | N | 0.773 | 0.424 | 0.312608672186 | gnomAD-4.0.0 | 8.69015E-06 | None | None | None | None | N | None | 1.33419E-05 | 0 | None | 0 | 6.72073E-05 | None | 0 | 0 | 5.94273E-06 | 1.09999E-05 | 3.20904E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5874 | likely_pathogenic | 0.6142 | pathogenic | -0.851 | Destabilizing | 0.559 | D | 0.74 | deleterious | None | None | None | None | N |
| S/C | 0.8398 | likely_pathogenic | 0.865 | pathogenic | -0.595 | Destabilizing | 0.997 | D | 0.75 | deleterious | D | 0.526076851 | None | None | N |
| S/D | 0.9927 | likely_pathogenic | 0.9952 | pathogenic | -1.199 | Destabilizing | 0.926 | D | 0.771 | deleterious | None | None | None | None | N |
| S/E | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -1.04 | Destabilizing | 0.926 | D | 0.774 | deleterious | None | None | None | None | N |
| S/F | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -0.558 | Destabilizing | 0.915 | D | 0.768 | deleterious | None | None | None | None | N |
| S/G | 0.1184 | likely_benign | 0.1339 | benign | -1.229 | Destabilizing | 0.014 | N | 0.492 | neutral | N | 0.397853604 | None | None | N |
| S/H | 0.9927 | likely_pathogenic | 0.9954 | pathogenic | -1.507 | Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| S/I | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | 0.102 | Stabilizing | 0.97 | D | 0.768 | deleterious | D | 0.525823361 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.53 | Destabilizing | 0.926 | D | 0.771 | deleterious | None | None | None | None | N |
| S/L | 0.9882 | likely_pathogenic | 0.9918 | pathogenic | 0.102 | Stabilizing | 0.86 | D | 0.754 | deleterious | None | None | None | None | N |
| S/M | 0.9934 | likely_pathogenic | 0.9952 | pathogenic | 0.027 | Stabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| S/N | 0.9754 | likely_pathogenic | 0.9839 | pathogenic | -1.019 | Destabilizing | 0.904 | D | 0.759 | deleterious | D | 0.525062893 | None | None | N |
| S/P | 0.9967 | likely_pathogenic | 0.9978 | pathogenic | -0.181 | Destabilizing | 0.993 | D | 0.776 | deleterious | None | None | None | None | N |
| S/Q | 0.9947 | likely_pathogenic | 0.9965 | pathogenic | -0.844 | Destabilizing | 0.993 | D | 0.748 | deleterious | None | None | None | None | N |
| S/R | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -0.767 | Destabilizing | 0.97 | D | 0.773 | deleterious | N | 0.502439188 | None | None | N |
| S/T | 0.8767 | likely_pathogenic | 0.8936 | pathogenic | -0.769 | Destabilizing | 0.904 | D | 0.744 | deleterious | D | 0.524048935 | None | None | N |
| S/V | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -0.181 | Destabilizing | 0.978 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/W | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -0.767 | Destabilizing | 0.043 | N | 0.771 | deleterious | None | None | None | None | N |
| S/Y | 0.9973 | likely_pathogenic | 0.9983 | pathogenic | -0.372 | Destabilizing | 0.915 | D | 0.768 | 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.