Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27600 | 83023;83024;83025 | chr2:178563334;178563333;178563332 | chr2:179428061;179428060;179428059 |
| N2AB | 25959 | 78100;78101;78102 | chr2:178563334;178563333;178563332 | chr2:179428061;179428060;179428059 |
| N2A | 25032 | 75319;75320;75321 | chr2:178563334;178563333;178563332 | chr2:179428061;179428060;179428059 |
| N2B | 18535 | 55828;55829;55830 | chr2:178563334;178563333;178563332 | chr2:179428061;179428060;179428059 |
| Novex-1 | 18660 | 56203;56204;56205 | chr2:178563334;178563333;178563332 | chr2:179428061;179428060;179428059 |
| Novex-2 | 18727 | 56404;56405;56406 | chr2:178563334;178563333;178563332 | chr2:179428061;179428060;179428059 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs11896637  |
-0.836 | 0.02 | N | 0.52 | 0.087 | None | gnomAD-2.1.1 | 1.10325E-02 | None | None | None | None | I | None | 1.11047E-01 | 5.52252E-03 | None | 5.52433E-03 | 3.09183E-04 | None | 3.59501E-04 | None | 0 | 7.68676E-04 | 4.21467E-03 |
| A/T | rs11896637 |
-0.836 | 0.02 | N | 0.52 | 0.087 | None | gnomAD-3.1.2 | 3.2295E-02 | None | None | None | None | I | None | 1.10926E-01 | 1.2713E-02 | 0 | 6.34006E-03 | 3.87447E-04 | None | 0 | 6.32911E-03 | 7.64683E-04 | 2.07125E-04 | 2.19675E-02 |
| A/T | rs11896637 |
-0.836 | 0.02 | N | 0.52 | 0.087 | None | 1000 genomes | 3.55431E-02 | None | None | None | None | I | None | 1.256E-01 | 1.59E-02 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| A/T | rs11896637 |
-0.836 | 0.02 | N | 0.52 | 0.087 | None | gnomAD-4.0.0 | 6.5352E-03 | None | None | None | None | I | None | 1.14019E-01 | 7.68487E-03 | None | 6.92614E-03 | 1.11672E-04 | None | 1.5625E-05 | 6.2727E-03 | 6.12861E-04 | 3.18394E-04 | 8.56329E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3893 | ambiguous | 0.43 | ambiguous | -0.743 | Destabilizing | 0.947 | D | 0.785 | deleterious | None | None | None | None | I |
| A/D | 0.5521 | ambiguous | 0.5224 | ambiguous | -1.046 | Destabilizing | 0.7 | D | 0.795 | deleterious | None | None | None | None | I |
| A/E | 0.4755 | ambiguous | 0.4596 | ambiguous | -1.192 | Destabilizing | 0.638 | D | 0.77 | deleterious | N | 0.509995391 | None | None | I |
| A/F | 0.368 | ambiguous | 0.3915 | ambiguous | -1.236 | Destabilizing | 0.826 | D | 0.803 | deleterious | None | None | None | None | I |
| A/G | 0.1575 | likely_benign | 0.1702 | benign | -0.698 | Destabilizing | 0.201 | N | 0.633 | neutral | N | 0.48313129 | None | None | I |
| A/H | 0.5724 | likely_pathogenic | 0.5797 | pathogenic | -0.8 | Destabilizing | 0.982 | D | 0.812 | deleterious | None | None | None | None | I |
| A/I | 0.3669 | ambiguous | 0.3662 | ambiguous | -0.534 | Destabilizing | 0.539 | D | 0.783 | deleterious | None | None | None | None | I |
| A/K | 0.6751 | likely_pathogenic | 0.6542 | pathogenic | -0.847 | Destabilizing | 0.7 | D | 0.771 | deleterious | None | None | None | None | I |
| A/L | 0.194 | likely_benign | 0.1938 | benign | -0.534 | Destabilizing | 0.25 | N | 0.713 | prob.delet. | None | None | None | None | I |
| A/M | 0.2225 | likely_benign | 0.2358 | benign | -0.268 | Destabilizing | 0.947 | D | 0.777 | deleterious | None | None | None | None | I |
| A/N | 0.3727 | ambiguous | 0.3921 | ambiguous | -0.479 | Destabilizing | 0.7 | D | 0.801 | deleterious | None | None | None | None | I |
| A/P | 0.957 | likely_pathogenic | 0.951 | pathogenic | -0.522 | Destabilizing | 0.901 | D | 0.786 | deleterious | N | 0.478903656 | None | None | I |
| A/Q | 0.4555 | ambiguous | 0.4491 | ambiguous | -0.832 | Destabilizing | 0.7 | D | 0.775 | deleterious | None | None | None | None | I |
| A/R | 0.6186 | likely_pathogenic | 0.5968 | pathogenic | -0.336 | Destabilizing | 0.7 | D | 0.777 | deleterious | None | None | None | None | I |
| A/S | 0.084 | likely_benign | 0.0895 | benign | -0.674 | Destabilizing | 0.017 | N | 0.521 | neutral | N | 0.383722018 | None | None | I |
| A/T | 0.1109 | likely_benign | 0.1084 | benign | -0.753 | Destabilizing | 0.02 | N | 0.52 | neutral | N | 0.500626547 | None | None | I |
| A/V | 0.1804 | likely_benign | 0.1836 | benign | -0.522 | Destabilizing | 0.201 | N | 0.679 | prob.neutral | N | 0.503512136 | None | None | I |
| A/W | 0.8392 | likely_pathogenic | 0.8453 | pathogenic | -1.382 | Destabilizing | 0.982 | D | 0.801 | deleterious | None | None | None | None | I |
| A/Y | 0.5488 | ambiguous | 0.559 | ambiguous | -1.029 | Destabilizing | 0.826 | D | 0.809 | deleterious | None | None | None | None | I |
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.