Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29168 | 87727;87728;87729 | chr2:178557852;178557851;178557850 | chr2:179422579;179422578;179422577 |
| N2AB | 27527 | 82804;82805;82806 | chr2:178557852;178557851;178557850 | chr2:179422579;179422578;179422577 |
| N2A | 26600 | 80023;80024;80025 | chr2:178557852;178557851;178557850 | chr2:179422579;179422578;179422577 |
| N2B | 20103 | 60532;60533;60534 | chr2:178557852;178557851;178557850 | chr2:179422579;179422578;179422577 |
| Novex-1 | 20228 | 60907;60908;60909 | chr2:178557852;178557851;178557850 | chr2:179422579;179422578;179422577 |
| Novex-2 | 20295 | 61108;61109;61110 | chr2:178557852;178557851;178557850 | chr2:179422579;179422578;179422577 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs762970451  |
-1.139 | 0.999 | N | 0.575 | 0.386 | 0.199424873507 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11272E-04 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs762970451 |
-1.139 | 0.999 | N | 0.575 | 0.386 | 0.199424873507 | gnomAD-4.0.0 | 1.11376E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.94078E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1233597826 |
None | 0.999 | N | 0.697 | 0.31 | 0.235038932564 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1233597826 |
None | 0.999 | N | 0.697 | 0.31 | 0.235038932564 | gnomAD-4.0.0 | 6.56918E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1619 | likely_benign | 0.1952 | benign | -0.83 | Destabilizing | 0.998 | D | 0.582 | neutral | None | None | None | None | I |
| S/C | 0.1037 | likely_benign | 0.1278 | benign | -0.515 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.437522005 | None | None | I |
| S/D | 0.9704 | likely_pathogenic | 0.9731 | pathogenic | -0.259 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | I |
| S/E | 0.9731 | likely_pathogenic | 0.9775 | pathogenic | -0.278 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | I |
| S/F | 0.7359 | likely_pathogenic | 0.7835 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| S/G | 0.2234 | likely_benign | 0.2906 | benign | -1.058 | Destabilizing | 0.999 | D | 0.575 | neutral | N | 0.506432224 | None | None | I |
| S/H | 0.8941 | likely_pathogenic | 0.9133 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| S/I | 0.6477 | likely_pathogenic | 0.6971 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.48624749 | None | None | I |
| S/K | 0.9906 | likely_pathogenic | 0.9942 | pathogenic | -0.753 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | I |
| S/L | 0.4165 | ambiguous | 0.5089 | ambiguous | -0.332 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| S/M | 0.5507 | ambiguous | 0.601 | pathogenic | 0.037 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| S/N | 0.6765 | likely_pathogenic | 0.7154 | pathogenic | -0.645 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | N | 0.488880836 | None | None | I |
| S/P | 0.977 | likely_pathogenic | 0.9815 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| S/Q | 0.9298 | likely_pathogenic | 0.9478 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| S/R | 0.9777 | likely_pathogenic | 0.9873 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.518230873 | None | None | I |
| S/T | 0.272 | likely_benign | 0.3006 | benign | -0.694 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.516750792 | None | None | I |
| S/V | 0.554 | ambiguous | 0.6087 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| S/W | 0.8738 | likely_pathogenic | 0.8924 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| S/Y | 0.7407 | likely_pathogenic | 0.7827 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.811 | 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.