Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2589 | 7990;7991;7992 | chr2:178773199;178773198;178773197 | chr2:179637926;179637925;179637924 |
| N2AB | 2589 | 7990;7991;7992 | chr2:178773199;178773198;178773197 | chr2:179637926;179637925;179637924 |
| N2A | 2589 | 7990;7991;7992 | chr2:178773199;178773198;178773197 | chr2:179637926;179637925;179637924 |
| N2B | 2543 | 7852;7853;7854 | chr2:178773199;178773198;178773197 | chr2:179637926;179637925;179637924 |
| Novex-1 | 2543 | 7852;7853;7854 | chr2:178773199;178773198;178773197 | chr2:179637926;179637925;179637924 |
| Novex-2 | 2543 | 7852;7853;7854 | chr2:178773199;178773198;178773197 | chr2:179637926;179637925;179637924 |
| Novex-3 | 2589 | 7990;7991;7992 | chr2:178773199;178773198;178773197 | chr2:179637926;179637925;179637924 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs372080212  |
-1.617 | 1.0 | D | 0.827 | 0.599 | 0.810717827077 | gnomAD-2.1.1 | 5.33E-05 | None | None | None | None | N | None | 4.44444E-04 | 8.5E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.39626E-04 |
| L/F | rs372080212 |
-1.617 | 1.0 | D | 0.827 | 0.599 | 0.810717827077 | gnomAD-3.1.2 | 1.05193E-04 | None | None | None | None | N | None | 3.38115E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/F | rs372080212 |
-1.617 | 1.0 | D | 0.827 | 0.599 | 0.810717827077 | gnomAD-4.0.0 | 1.92124E-05 | None | None | None | None | N | None | 3.07207E-04 | 8.3414E-05 | None | 0 | 0 | None | 0 | 0 | 8.47581E-07 | 0 | 3.20154E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9376 | likely_pathogenic | 0.9299 | pathogenic | -2.422 | Highly Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| L/C | 0.8967 | likely_pathogenic | 0.8837 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.205 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| L/E | 0.9966 | likely_pathogenic | 0.9952 | pathogenic | -2.889 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| L/F | 0.7111 | likely_pathogenic | 0.7128 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.706910736 | None | None | N |
| L/G | 0.9866 | likely_pathogenic | 0.9842 | pathogenic | -2.987 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| L/H | 0.9914 | likely_pathogenic | 0.9876 | pathogenic | -2.886 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| L/I | 0.3337 | likely_benign | 0.3018 | benign | -0.706 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| L/K | 0.9932 | likely_pathogenic | 0.9907 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| L/M | 0.3418 | ambiguous | 0.3302 | benign | -0.921 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.685113798 | None | None | N |
| L/N | 0.9957 | likely_pathogenic | 0.9944 | pathogenic | -2.697 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| L/P | 0.9988 | likely_pathogenic | 0.9981 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| L/Q | 0.985 | likely_pathogenic | 0.979 | pathogenic | -2.269 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| L/R | 0.9861 | likely_pathogenic | 0.9812 | pathogenic | -2.186 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| L/S | 0.9955 | likely_pathogenic | 0.9939 | pathogenic | -3.091 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.746746189 | None | None | N |
| L/T | 0.9819 | likely_pathogenic | 0.9787 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/V | 0.4247 | ambiguous | 0.391 | ambiguous | -1.272 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | D | 0.706993427 | None | None | N |
| L/W | 0.9759 | likely_pathogenic | 0.9712 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.746746189 | None | None | N |
| L/Y | 0.9636 | likely_pathogenic | 0.9606 | pathogenic | -1.689 | Destabilizing | 1.0 | D | 0.881 | 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.