Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16222 | 48889;48890;48891 | chr2:178614943;178614942;178614941 | chr2:179479670;179479669;179479668 |
| N2AB | 14581 | 43966;43967;43968 | chr2:178614943;178614942;178614941 | chr2:179479670;179479669;179479668 |
| N2A | 13654 | 41185;41186;41187 | chr2:178614943;178614942;178614941 | chr2:179479670;179479669;179479668 |
| N2B | 7157 | 21694;21695;21696 | chr2:178614943;178614942;178614941 | chr2:179479670;179479669;179479668 |
| Novex-1 | 7282 | 22069;22070;22071 | chr2:178614943;178614942;178614941 | chr2:179479670;179479669;179479668 |
| Novex-2 | 7349 | 22270;22271;22272 | chr2:178614943;178614942;178614941 | chr2:179479670;179479669;179479668 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs762011828  |
-1.059 | 1.0 | D | 0.81 | 0.485 | 0.481321013822 | gnomAD-2.1.1 | 1.33E-05 | None | None | None | None | N | None | 0 | 9.41E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs762011828 |
-1.059 | 1.0 | D | 0.81 | 0.485 | 0.481321013822 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs762011828 |
-1.059 | 1.0 | D | 0.81 | 0.485 | 0.481321013822 | gnomAD-4.0.0 | 7.85383E-06 | None | None | None | None | N | None | 0 | 1.05545E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs2057033941 |
None | 1.0 | D | 0.853 | 0.543 | 0.698430411796 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| G/R | rs2057033941 |
None | 1.0 | D | 0.853 | 0.543 | 0.698430411796 | gnomAD-4.0.0 | 2.61688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.78249E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5984 | likely_pathogenic | 0.6903 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.594029213 | None | None | N |
| G/C | 0.7157 | likely_pathogenic | 0.7969 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.791671283 | None | None | N |
| G/D | 0.366 | ambiguous | 0.4664 | ambiguous | -1.23 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.582701376 | None | None | N |
| G/E | 0.5738 | likely_pathogenic | 0.6721 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/F | 0.9468 | likely_pathogenic | 0.9651 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.7789 | likely_pathogenic | 0.8364 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/I | 0.9597 | likely_pathogenic | 0.9725 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/K | 0.7799 | likely_pathogenic | 0.8281 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/L | 0.9001 | likely_pathogenic | 0.9278 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/M | 0.8952 | likely_pathogenic | 0.9305 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/N | 0.3775 | ambiguous | 0.4671 | ambiguous | -0.853 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/P | 0.995 | likely_pathogenic | 0.9966 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/Q | 0.6903 | likely_pathogenic | 0.7618 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/R | 0.7604 | likely_pathogenic | 0.806 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.735683977 | None | None | N |
| G/S | 0.3323 | likely_benign | 0.4112 | ambiguous | -1.03 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.585038827 | None | None | N |
| G/T | 0.6912 | likely_pathogenic | 0.7777 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/V | 0.9048 | likely_pathogenic | 0.9333 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.691899514 | None | None | N |
| G/W | 0.8862 | likely_pathogenic | 0.9139 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Y | 0.8611 | likely_pathogenic | 0.9044 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.813 | 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.