Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29132 | 87619;87620;87621 | chr2:178557960;178557959;178557958 | chr2:179422687;179422686;179422685 |
| N2AB | 27491 | 82696;82697;82698 | chr2:178557960;178557959;178557958 | chr2:179422687;179422686;179422685 |
| N2A | 26564 | 79915;79916;79917 | chr2:178557960;178557959;178557958 | chr2:179422687;179422686;179422685 |
| N2B | 20067 | 60424;60425;60426 | chr2:178557960;178557959;178557958 | chr2:179422687;179422686;179422685 |
| Novex-1 | 20192 | 60799;60800;60801 | chr2:178557960;178557959;178557958 | chr2:179422687;179422686;179422685 |
| Novex-2 | 20259 | 61000;61001;61002 | chr2:178557960;178557959;178557958 | chr2:179422687;179422686;179422685 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs781458602  |
None | 0.997 | N | 0.694 | 0.207 | None | gnomAD-4.0.0 | 1.36891E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 0 | 0 |
| I/T | None | None | 0.978 | N | 0.778 | 0.455 | 0.721989398711 | gnomAD-4.0.0 | 3.18512E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71549E-06 | 0 | 0 |
| I/V | rs748373640 |
-1.314 | 0.198 | N | 0.229 | 0.104 | 0.319114376414 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.93723E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs748373640 |
-1.314 | 0.198 | N | 0.229 | 0.104 | 0.319114376414 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs748373640 |
-1.314 | 0.198 | N | 0.229 | 0.104 | 0.319114376414 | gnomAD-4.0.0 | 3.71914E-06 | None | None | None | None | N | None | 8.00619E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8306 | likely_pathogenic | 0.81 | pathogenic | -2.712 | Highly Destabilizing | 0.983 | D | 0.729 | prob.delet. | None | None | None | None | N |
| I/C | 0.9096 | likely_pathogenic | 0.9056 | pathogenic | -2.14 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| I/D | 0.9972 | likely_pathogenic | 0.9972 | pathogenic | -3.098 | Highly Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| I/E | 0.9945 | likely_pathogenic | 0.9946 | pathogenic | -2.826 | Highly Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| I/F | 0.3359 | likely_benign | 0.2878 | benign | -1.625 | Destabilizing | 0.997 | D | 0.739 | prob.delet. | N | 0.460099887 | None | None | N |
| I/G | 0.9847 | likely_pathogenic | 0.9827 | pathogenic | -3.316 | Highly Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | N |
| I/H | 0.9868 | likely_pathogenic | 0.9852 | pathogenic | -2.821 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| I/K | 0.9875 | likely_pathogenic | 0.9891 | pathogenic | -2.16 | Highly Destabilizing | 0.999 | D | 0.868 | deleterious | None | None | None | None | N |
| I/L | 0.2304 | likely_benign | 0.2082 | benign | -0.942 | Destabilizing | 0.798 | D | 0.425 | neutral | N | 0.443894459 | None | None | N |
| I/M | 0.2091 | likely_benign | 0.2041 | benign | -0.995 | Destabilizing | 0.997 | D | 0.694 | prob.neutral | N | 0.460353376 | None | None | N |
| I/N | 0.9739 | likely_pathogenic | 0.9728 | pathogenic | -2.645 | Highly Destabilizing | 0.999 | D | 0.861 | deleterious | N | 0.461367335 | None | None | N |
| I/P | 0.99 | likely_pathogenic | 0.9887 | pathogenic | -1.515 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| I/Q | 0.9896 | likely_pathogenic | 0.9903 | pathogenic | -2.419 | Highly Destabilizing | 0.999 | D | 0.872 | deleterious | None | None | None | None | N |
| I/R | 0.9793 | likely_pathogenic | 0.9814 | pathogenic | -1.964 | Destabilizing | 0.999 | D | 0.87 | deleterious | None | None | None | None | N |
| I/S | 0.9459 | likely_pathogenic | 0.941 | pathogenic | -3.372 | Highly Destabilizing | 0.997 | D | 0.827 | deleterious | N | 0.461113845 | None | None | N |
| I/T | 0.7535 | likely_pathogenic | 0.7321 | pathogenic | -2.935 | Highly Destabilizing | 0.978 | D | 0.778 | deleterious | N | 0.461113845 | None | None | N |
| I/V | 0.0928 | likely_benign | 0.0879 | benign | -1.515 | Destabilizing | 0.198 | N | 0.229 | neutral | N | 0.383900085 | None | None | N |
| I/W | 0.9651 | likely_pathogenic | 0.9595 | pathogenic | -2.04 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| I/Y | 0.9089 | likely_pathogenic | 0.8896 | pathogenic | -1.758 | Destabilizing | 0.999 | D | 0.794 | 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.