Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14785 | 44578;44579;44580 | chr2:178629372;178629371;178629370 | chr2:179494099;179494098;179494097 |
| N2AB | 13144 | 39655;39656;39657 | chr2:178629372;178629371;178629370 | chr2:179494099;179494098;179494097 |
| N2A | 12217 | 36874;36875;36876 | chr2:178629372;178629371;178629370 | chr2:179494099;179494098;179494097 |
| N2B | 5720 | 17383;17384;17385 | chr2:178629372;178629371;178629370 | chr2:179494099;179494098;179494097 |
| Novex-1 | 5845 | 17758;17759;17760 | chr2:178629372;178629371;178629370 | chr2:179494099;179494098;179494097 |
| Novex-2 | 5912 | 17959;17960;17961 | chr2:178629372;178629371;178629370 | chr2:179494099;179494098;179494097 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs757662563  |
-1.255 | 1.0 | D | 0.872 | 0.643 | 0.843457257234 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.68881E-04 | None | 0 | None | 0 | 0 | 0 |
| C/F | rs757662563 |
-1.255 | 1.0 | D | 0.872 | 0.643 | 0.843457257234 | gnomAD-4.0.0 | 3.18631E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57289E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6767 | likely_pathogenic | 0.7737 | pathogenic | -1.508 | Destabilizing | 0.998 | D | 0.675 | prob.neutral | None | None | None | None | N |
| C/D | 0.997 | likely_pathogenic | 0.9987 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/E | 0.9982 | likely_pathogenic | 0.9992 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| C/F | 0.8264 | likely_pathogenic | 0.9022 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.669054662 | None | None | N |
| C/G | 0.5746 | likely_pathogenic | 0.7069 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.669054662 | None | None | N |
| C/H | 0.9932 | likely_pathogenic | 0.9969 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| C/I | 0.7721 | likely_pathogenic | 0.8473 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| C/K | 0.9989 | likely_pathogenic | 0.9995 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/L | 0.799 | likely_pathogenic | 0.8715 | pathogenic | -0.586 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| C/M | 0.8909 | likely_pathogenic | 0.937 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| C/N | 0.9838 | likely_pathogenic | 0.9938 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| C/P | 0.9988 | likely_pathogenic | 0.9994 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| C/Q | 0.9951 | likely_pathogenic | 0.9975 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| C/R | 0.9892 | likely_pathogenic | 0.9941 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.708879564 | None | None | N |
| C/S | 0.7456 | likely_pathogenic | 0.8657 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.669054662 | None | None | N |
| C/T | 0.7611 | likely_pathogenic | 0.8677 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| C/V | 0.5742 | likely_pathogenic | 0.6397 | pathogenic | -0.873 | Destabilizing | 0.999 | D | 0.788 | deleterious | None | None | None | None | N |
| C/W | 0.9824 | likely_pathogenic | 0.9907 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.708879564 | None | None | N |
| C/Y | 0.9596 | likely_pathogenic | 0.9814 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.707777667 | 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.