Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7681 | 23266;23267;23268 | chr2:178720978;178720977;178720976 | chr2:179585705;179585704;179585703 |
| N2AB | 7364 | 22315;22316;22317 | chr2:178720978;178720977;178720976 | chr2:179585705;179585704;179585703 |
| N2A | 6437 | 19534;19535;19536 | chr2:178720978;178720977;178720976 | chr2:179585705;179585704;179585703 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/Y | rs573529663  |
-1.386 | 1.0 | D | 0.899 | 0.565 | 0.859650565826 | gnomAD-2.1.1 | 4.03E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| C/Y | rs573529663 |
-1.386 | 1.0 | D | 0.899 | 0.565 | 0.859650565826 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs573529663 |
-1.386 | 1.0 | D | 0.899 | 0.565 | 0.859650565826 | 1000 genomes | 1.99681E-04 | None | None | disulfide | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| C/Y | rs573529663 |
-1.386 | 1.0 | D | 0.899 | 0.565 | 0.859650565826 | gnomAD-4.0.0 | 2.57784E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.83286E-06 | 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 | 0.9638 | likely_pathogenic | 0.9679 | pathogenic | -1.602 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9123 | likely_pathogenic | 0.9414 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.553471313 | disulfide | None | N |
| C/G | 0.9428 | likely_pathogenic | 0.9502 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.566348555 | disulfide | None | N |
| C/H | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9398 | likely_pathogenic | 0.951 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8766 | likely_pathogenic | 0.8993 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9756 | likely_pathogenic | 0.98 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.566348555 | disulfide | None | N |
| C/S | 0.9885 | likely_pathogenic | 0.9885 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.566348555 | disulfide | None | N |
| C/T | 0.9902 | likely_pathogenic | 0.9914 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8748 | likely_pathogenic | 0.8965 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9942 | likely_pathogenic | 0.9954 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.566348555 | disulfide | None | N |
| C/Y | 0.9919 | likely_pathogenic | 0.9942 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.566348556 | disulfide | 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.