Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25719 | 77380;77381;77382 | chr2:178568977;178568976;178568975 | chr2:179433704;179433703;179433702 |
| N2AB | 24078 | 72457;72458;72459 | chr2:178568977;178568976;178568975 | chr2:179433704;179433703;179433702 |
| N2A | 23151 | 69676;69677;69678 | chr2:178568977;178568976;178568975 | chr2:179433704;179433703;179433702 |
| N2B | 16654 | 50185;50186;50187 | chr2:178568977;178568976;178568975 | chr2:179433704;179433703;179433702 |
| Novex-1 | 16779 | 50560;50561;50562 | chr2:178568977;178568976;178568975 | chr2:179433704;179433703;179433702 |
| Novex-2 | 16846 | 50761;50762;50763 | chr2:178568977;178568976;178568975 | chr2:179433704;179433703;179433702 |
| 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/C | rs1707088255  |
None | 1.0 | D | 0.847 | 0.858 | 0.83828980565 | gnomAD-4.0.0 | 1.32035E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44375E-05 | 0 | 0 |
| W/G | None | None | 1.0 | D | 0.847 | 0.868 | 0.870675680197 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15972E-05 | 0 |
| W/R | None | None | 1.0 | D | 0.914 | 0.877 | 0.897805669097 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99607E-07 | 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 | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -3.154 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.67763278 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.492 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.357 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/F | 0.7826 | likely_pathogenic | 0.7879 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/G | 0.9908 | likely_pathogenic | 0.9903 | pathogenic | -3.414 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.67763278 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -2.679 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/I | 0.9958 | likely_pathogenic | 0.9952 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/L | 0.9881 | likely_pathogenic | 0.9859 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.660372233 | None | None | N |
| W/M | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.242 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.524 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.021 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.67763278 | None | None | N |
| W/S | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -3.371 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.67763278 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -3.152 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/V | 0.996 | likely_pathogenic | 0.9952 | pathogenic | -2.524 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/Y | 0.9708 | likely_pathogenic | 0.9702 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.864 | 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.