Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33529 | 100810;100811;100812 | chr2:178536162;178536161;178536160 | chr2:179400889;179400888;179400887 |
| N2AB | 31888 | 95887;95888;95889 | chr2:178536162;178536161;178536160 | chr2:179400889;179400888;179400887 |
| N2A | 30961 | 93106;93107;93108 | chr2:178536162;178536161;178536160 | chr2:179400889;179400888;179400887 |
| N2B | 24464 | 73615;73616;73617 | chr2:178536162;178536161;178536160 | chr2:179400889;179400888;179400887 |
| Novex-1 | 24589 | 73990;73991;73992 | chr2:178536162;178536161;178536160 | chr2:179400889;179400888;179400887 |
| Novex-2 | 24656 | 74191;74192;74193 | chr2:178536162;178536161;178536160 | chr2:179400889;179400888;179400887 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs998397847  |
None | 1.0 | D | 0.859 | 0.919 | 0.942631964305 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs998397847 |
None | 1.0 | D | 0.859 | 0.919 | 0.942631964305 | gnomAD-4.0.0 | 3.71858E-06 | None | None | None | None | N | None | 2.67008E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39066E-06 | 0 | 0 |
| W/S | rs1222059449 |
None | 1.0 | D | 0.837 | 0.881 | 0.958753196929 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/S | rs1222059449 |
None | 1.0 | D | 0.837 | 0.881 | 0.958753196929 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47029E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -2.973 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.69447536 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.697 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.585 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/F | 0.6694 | likely_pathogenic | 0.6174 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| W/G | 0.9941 | likely_pathogenic | 0.9929 | pathogenic | -3.2 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.694273556 | None | None | N |
| W/H | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -2.493 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| W/I | 0.9924 | likely_pathogenic | 0.9829 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.792 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/L | 0.9828 | likely_pathogenic | 0.9676 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.694273556 | None | None | N |
| W/M | 0.9965 | likely_pathogenic | 0.9944 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.567 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.347 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/R | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.672 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.69447536 | None | None | N |
| W/S | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -3.577 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.69447536 | None | None | N |
| W/T | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -3.389 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/V | 0.9942 | likely_pathogenic | 0.9877 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/Y | 0.9397 | likely_pathogenic | 0.9157 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.804 | 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.