Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8803 | 26632;26633;26634 | chr2:178714367;178714366;178714365 | chr2:179579094;179579093;179579092 |
| N2AB | 8486 | 25681;25682;25683 | chr2:178714367;178714366;178714365 | chr2:179579094;179579093;179579092 |
| N2A | 7559 | 22900;22901;22902 | chr2:178714367;178714366;178714365 | chr2:179579094;179579093;179579092 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs12693164  |
-0.869 | 0.018 | N | 0.345 | 0.186 | None | gnomAD-2.1.1 | 1.77519E-01 | None | None | None | None | N | None | 1.62461E-01 | 1.76252E-01 | None | 1.26429E-01 | 4.30533E-01 | None | 2.31679E-01 | None | 9.44995E-02 | 1.50207E-01 | 1.63854E-01 |
| N/S | rs12693164 |
-0.869 | 0.018 | N | 0.345 | 0.186 | None | gnomAD-3.1.2 | 1.68341E-01 | None | None | None | None | N | None | 1.63632E-01 | 1.73939E-01 | 4.71429E-01 | 1.3076E-01 | 4.34414E-01 | None | 9.80965E-02 | 1.23418E-01 | 1.5406E-01 | 2.33637E-01 | 1.68582E-01 |
| N/S | rs12693164 |
-0.869 | 0.018 | N | 0.345 | 0.186 | None | 1000 genomes | 2.47005E-01 | None | None | None | None | N | None | 1.936E-01 | 1.859E-01 | None | None | 4.365E-01 | 1.561E-01 | None | None | None | 2.607E-01 | None |
| N/S | rs12693164 |
-0.869 | 0.018 | N | 0.345 | 0.186 | None | gnomAD-4.0.0 | 1.64667E-01 | None | None | None | None | N | None | 1.64431E-01 | 1.76194E-01 | None | 1.28514E-01 | 4.42963E-01 | None | 9.425E-02 | 2.04193E-01 | 1.52411E-01 | 2.29363E-01 | 1.72119E-01 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1384 | likely_benign | 0.1809 | benign | -1.015 | Destabilizing | 0.108 | N | 0.626 | neutral | None | None | None | None | N |
| N/C | 0.1657 | likely_benign | 0.216 | benign | -0.256 | Destabilizing | 0.998 | D | 0.802 | deleterious | None | None | None | None | N |
| N/D | 0.092 | likely_benign | 0.1096 | benign | -0.878 | Destabilizing | 0.576 | D | 0.573 | neutral | N | 0.350177087 | None | None | N |
| N/E | 0.3817 | ambiguous | 0.4435 | ambiguous | -0.659 | Destabilizing | 0.857 | D | 0.592 | neutral | None | None | None | None | N |
| N/F | 0.3521 | ambiguous | 0.4463 | ambiguous | -0.663 | Destabilizing | 0.066 | N | 0.521 | neutral | None | None | None | None | N |
| N/G | 0.1915 | likely_benign | 0.2487 | benign | -1.42 | Destabilizing | 0.757 | D | 0.562 | neutral | None | None | None | None | N |
| N/H | 0.0943 | likely_benign | 0.1006 | benign | -0.779 | Destabilizing | 0.993 | D | 0.622 | neutral | N | 0.449288941 | None | None | N |
| N/I | 0.1611 | likely_benign | 0.2205 | benign | 0.067 | Stabilizing | 0.957 | D | 0.777 | deleterious | N | 0.501723578 | None | None | N |
| N/K | 0.3982 | ambiguous | 0.4865 | ambiguous | -0.043 | Destabilizing | 0.944 | D | 0.592 | neutral | N | 0.500963109 | None | None | N |
| N/L | 0.1789 | likely_benign | 0.2265 | benign | 0.067 | Stabilizing | 0.808 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/M | 0.2168 | likely_benign | 0.2629 | benign | 0.253 | Stabilizing | 0.995 | D | 0.8 | deleterious | None | None | None | None | N |
| N/P | 0.683 | likely_pathogenic | 0.75 | pathogenic | -0.266 | Destabilizing | 0.928 | D | 0.777 | deleterious | None | None | None | None | N |
| N/Q | 0.3174 | likely_benign | 0.3565 | ambiguous | -0.662 | Destabilizing | 0.984 | D | 0.633 | neutral | None | None | None | None | N |
| N/R | 0.4231 | ambiguous | 0.5117 | ambiguous | -0.187 | Destabilizing | 0.987 | D | 0.625 | neutral | None | None | None | None | N |
| N/S | 0.0575 | likely_benign | 0.0652 | benign | -1.128 | Destabilizing | 0.018 | N | 0.345 | neutral | N | 0.498773612 | None | None | N |
| N/T | 0.1037 | likely_benign | 0.1311 | benign | -0.684 | Destabilizing | 0.012 | N | 0.264 | neutral | N | 0.490866205 | None | None | N |
| N/V | 0.1598 | likely_benign | 0.2081 | benign | -0.266 | Destabilizing | 0.413 | N | 0.742 | deleterious | None | None | None | None | N |
| N/W | 0.6383 | likely_pathogenic | 0.7116 | pathogenic | -0.444 | Destabilizing | 0.999 | D | 0.798 | deleterious | None | None | None | None | N |
| N/Y | 0.1212 | likely_benign | 0.1443 | benign | -0.15 | Destabilizing | 0.967 | D | 0.777 | deleterious | D | 0.53629185 | 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.