Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21727 | 65404;65405;65406 | chr2:178584372;178584371;178584370 | chr2:179449099;179449098;179449097 |
| N2AB | 20086 | 60481;60482;60483 | chr2:178584372;178584371;178584370 | chr2:179449099;179449098;179449097 |
| N2A | 19159 | 57700;57701;57702 | chr2:178584372;178584371;178584370 | chr2:179449099;179449098;179449097 |
| N2B | 12662 | 38209;38210;38211 | chr2:178584372;178584371;178584370 | chr2:179449099;179449098;179449097 |
| Novex-1 | 12787 | 38584;38585;38586 | chr2:178584372;178584371;178584370 | chr2:179449099;179449098;179449097 |
| Novex-2 | 12854 | 38785;38786;38787 | chr2:178584372;178584371;178584370 | chr2:179449099;179449098;179449097 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs752748458  |
-0.723 | 1.0 | N | 0.792 | 0.577 | 0.502629187243 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs752748458 |
-0.723 | 1.0 | N | 0.792 | 0.577 | 0.502629187243 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs752748458 |
-0.723 | 1.0 | N | 0.792 | 0.577 | 0.502629187243 | gnomAD-4.0.0 | 6.57592E-06 | None | None | None | None | N | None | 2.41336E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs756099303 |
-0.895 | 1.0 | N | 0.797 | 0.497 | 0.444202592202 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 2.68E-05 | 1.66113E-04 |
| G/S | rs756099303 |
-0.895 | 1.0 | N | 0.797 | 0.497 | 0.444202592202 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs756099303 |
-0.895 | 1.0 | N | 0.797 | 0.497 | 0.444202592202 | gnomAD-4.0.0 | 1.48781E-05 | None | None | None | None | N | None | 0 | 1.668E-05 | None | 0 | 0 | None | 0 | 0 | 1.69569E-05 | 1.09839E-05 | 3.20359E-05 |
| G/V | rs752748458 |
-0.25 | 1.0 | D | 0.831 | 0.639 | 0.688807517241 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| G/V | rs752748458 |
-0.25 | 1.0 | D | 0.831 | 0.639 | 0.688807517241 | gnomAD-4.0.0 | 2.73772E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5988E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8331 | likely_pathogenic | 0.7313 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.486419436 | None | None | N |
| G/C | 0.8923 | likely_pathogenic | 0.801 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.544405959 | None | None | N |
| G/D | 0.8699 | likely_pathogenic | 0.7267 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.483924221 | None | None | N |
| G/E | 0.9384 | likely_pathogenic | 0.8617 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/F | 0.9814 | likely_pathogenic | 0.9619 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/H | 0.9752 | likely_pathogenic | 0.9373 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/I | 0.975 | likely_pathogenic | 0.9511 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/K | 0.987 | likely_pathogenic | 0.9683 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/L | 0.9755 | likely_pathogenic | 0.9492 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.9731 | likely_pathogenic | 0.9427 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/N | 0.8338 | likely_pathogenic | 0.6936 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/P | 0.9975 | likely_pathogenic | 0.9955 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/Q | 0.9664 | likely_pathogenic | 0.9191 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/R | 0.9773 | likely_pathogenic | 0.9449 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.516640465 | None | None | N |
| G/S | 0.6691 | likely_pathogenic | 0.4928 | ambiguous | -0.947 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.483265884 | None | None | N |
| G/T | 0.9069 | likely_pathogenic | 0.8199 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/V | 0.9546 | likely_pathogenic | 0.9119 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.532542674 | None | None | N |
| G/W | 0.9652 | likely_pathogenic | 0.9236 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Y | 0.9581 | likely_pathogenic | 0.921 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.803 | 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.