Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8234 | 24925;24926;24927 | chr2:178718406;178718405;178718404 | chr2:179583133;179583132;179583131 |
| N2AB | 7917 | 23974;23975;23976 | chr2:178718406;178718405;178718404 | chr2:179583133;179583132;179583131 |
| N2A | 6990 | 21193;21194;21195 | chr2:178718406;178718405;178718404 | chr2:179583133;179583132;179583131 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs747575161  |
-0.936 | 0.997 | N | 0.527 | 0.311 | 0.422040124859 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/A | rs747575161 |
-0.936 | 0.997 | N | 0.527 | 0.311 | 0.422040124859 | gnomAD-4.0.0 | 2.73688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59796E-06 | 0 | 0 |
| T/I | rs369521909 |
-0.13 | 1.0 | D | 0.753 | 0.347 | None | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 3.56E-05 | 0 |
| T/I | rs369521909 |
-0.13 | 1.0 | D | 0.753 | 0.347 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/I | rs369521909 |
-0.13 | 1.0 | D | 0.753 | 0.347 | None | gnomAD-4.0.0 | 2.10706E-05 | None | None | None | None | N | None | 1.33497E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54294E-05 | 0 | 4.80354E-05 |
| T/K | None | None | 1.0 | N | 0.677 | 0.342 | 0.480724696071 | gnomAD-4.0.0 | 6.84229E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99497E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0995 | likely_benign | 0.087 | benign | -0.679 | Destabilizing | 0.997 | D | 0.527 | neutral | N | 0.507177626 | None | None | N |
| T/C | 0.4405 | ambiguous | 0.4171 | ambiguous | -0.313 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/D | 0.2467 | likely_benign | 0.208 | benign | -0.197 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/E | 0.2452 | likely_benign | 0.2014 | benign | -0.24 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/F | 0.3985 | ambiguous | 0.359 | ambiguous | -1.015 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/G | 0.1821 | likely_benign | 0.1537 | benign | -0.876 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/H | 0.2286 | likely_benign | 0.1998 | benign | -1.247 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/I | 0.373 | ambiguous | 0.337 | benign | -0.262 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.524093793 | None | None | N |
| T/K | 0.1409 | likely_benign | 0.1266 | benign | -0.546 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.518434021 | None | None | N |
| T/L | 0.1903 | likely_benign | 0.1734 | benign | -0.262 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| T/M | 0.163 | likely_benign | 0.1431 | benign | 0.204 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/N | 0.0962 | likely_benign | 0.088 | benign | -0.407 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| T/P | 0.3757 | ambiguous | 0.3331 | benign | -0.371 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.535703588 | None | None | N |
| T/Q | 0.1776 | likely_benign | 0.1507 | benign | -0.68 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/R | 0.1235 | likely_benign | 0.1106 | benign | -0.254 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.489326861 | None | None | N |
| T/S | 0.0811 | likely_benign | 0.0719 | benign | -0.661 | Destabilizing | 0.999 | D | 0.482 | neutral | D | 0.531499319 | None | None | N |
| T/V | 0.2406 | likely_benign | 0.2144 | benign | -0.371 | Destabilizing | 0.999 | D | 0.539 | neutral | None | None | None | None | N |
| T/W | 0.7071 | likely_pathogenic | 0.6525 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/Y | 0.3967 | ambiguous | 0.3646 | ambiguous | -0.691 | Destabilizing | 1.0 | D | 0.779 | 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.