Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29673 | 89242;89243;89244 | chr2:178554094;178554093;178554092 | chr2:179418821;179418820;179418819 |
| N2AB | 28032 | 84319;84320;84321 | chr2:178554094;178554093;178554092 | chr2:179418821;179418820;179418819 |
| N2A | 27105 | 81538;81539;81540 | chr2:178554094;178554093;178554092 | chr2:179418821;179418820;179418819 |
| N2B | 20608 | 62047;62048;62049 | chr2:178554094;178554093;178554092 | chr2:179418821;179418820;179418819 |
| Novex-1 | 20733 | 62422;62423;62424 | chr2:178554094;178554093;178554092 | chr2:179418821;179418820;179418819 |
| Novex-2 | 20800 | 62623;62624;62625 | chr2:178554094;178554093;178554092 | chr2:179418821;179418820;179418819 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | rs200639218  |
-1.17 | 1.0 | N | 0.76 | 0.544 | 0.605592448911 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/L | rs200639218 |
-1.17 | 1.0 | N | 0.76 | 0.544 | 0.605592448911 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/L | rs200639218 |
-1.17 | 1.0 | N | 0.76 | 0.544 | 0.605592448911 | gnomAD-4.0.0 | 6.19677E-06 | None | None | None | None | N | None | 1.3349E-05 | 1.66678E-05 | None | 0 | 0 | None | 0 | 0 | 6.78073E-06 | 0 | 0 |
| R/Q | rs200639218 |
-1.499 | 1.0 | N | 0.676 | 0.382 | None | gnomAD-2.1.1 | 2.14378E-04 | None | None | None | None | N | None | 0 | 8.20089E-04 | None | 9.68E-05 | 5.12E-05 | None | 2.61438E-04 | None | 0 | 1.48747E-04 | 2.81136E-04 |
| R/Q | rs200639218 |
-1.499 | 1.0 | N | 0.676 | 0.382 | None | gnomAD-3.1.2 | 2.10308E-04 | None | None | None | None | N | None | 0 | 1.5713E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.02902E-04 | 0 | 4.78927E-04 |
| R/Q | rs200639218 |
-1.499 | 1.0 | N | 0.676 | 0.382 | None | gnomAD-4.0.0 | 1.43146E-04 | None | None | None | None | N | None | 0 | 9.33396E-04 | None | 3.37861E-05 | 4.45633E-05 | None | 0 | 6.57678E-04 | 1.13577E-04 | 2.08599E-04 | 2.40161E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9431 | likely_pathogenic | 0.9739 | pathogenic | -2.295 | Highly Destabilizing | 0.999 | D | 0.556 | neutral | None | None | None | None | N |
| R/C | 0.401 | ambiguous | 0.5632 | ambiguous | -2.077 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| R/D | 0.993 | likely_pathogenic | 0.9968 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| R/E | 0.9231 | likely_pathogenic | 0.9629 | pathogenic | -0.797 | Destabilizing | 0.999 | D | 0.539 | neutral | None | None | None | None | N |
| R/F | 0.9472 | likely_pathogenic | 0.9745 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| R/G | 0.8843 | likely_pathogenic | 0.9477 | pathogenic | -2.633 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.503048299 | None | None | N |
| R/H | 0.2771 | likely_benign | 0.3946 | ambiguous | -2.352 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/I | 0.8884 | likely_pathogenic | 0.9425 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| R/K | 0.1988 | likely_benign | 0.2463 | benign | -1.37 | Destabilizing | 0.998 | D | 0.485 | neutral | None | None | None | None | N |
| R/L | 0.7689 | likely_pathogenic | 0.8608 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.496362801 | None | None | N |
| R/M | 0.7837 | likely_pathogenic | 0.8771 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| R/N | 0.968 | likely_pathogenic | 0.9852 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/P | 0.9971 | likely_pathogenic | 0.9986 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.535231111 | None | None | N |
| R/Q | 0.2547 | likely_benign | 0.38 | ambiguous | -1.297 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.48272509 | None | None | N |
| R/S | 0.9723 | likely_pathogenic | 0.9883 | pathogenic | -2.373 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| R/T | 0.9264 | likely_pathogenic | 0.966 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/V | 0.9128 | likely_pathogenic | 0.9532 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| R/W | 0.5779 | likely_pathogenic | 0.7412 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| R/Y | 0.8041 | likely_pathogenic | 0.896 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.904 | 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.