Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18967 | 57124;57125;57126 | chr2:178598811;178598810;178598809 | chr2:179463538;179463537;179463536 |
| N2AB | 17326 | 52201;52202;52203 | chr2:178598811;178598810;178598809 | chr2:179463538;179463537;179463536 |
| N2A | 16399 | 49420;49421;49422 | chr2:178598811;178598810;178598809 | chr2:179463538;179463537;179463536 |
| N2B | 9902 | 29929;29930;29931 | chr2:178598811;178598810;178598809 | chr2:179463538;179463537;179463536 |
| Novex-1 | 10027 | 30304;30305;30306 | chr2:178598811;178598810;178598809 | chr2:179463538;179463537;179463536 |
| Novex-2 | 10094 | 30505;30506;30507 | chr2:178598811;178598810;178598809 | chr2:179463538;179463537;179463536 |
| 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/K | rs1224594831  |
-0.426 | 1.0 | D | 0.736 | 0.611 | 0.376216005999 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| N/K | rs1224594831 |
-0.426 | 1.0 | D | 0.736 | 0.611 | 0.376216005999 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86002E-06 | 0 | 0 |
| N/S | rs727503594 |
-0.992 | 0.999 | N | 0.572 | 0.526 | 0.375861065471 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs727503594 |
-0.992 | 0.999 | N | 0.572 | 0.526 | 0.375861065471 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs727503594 |
-0.992 | 0.999 | N | 0.572 | 0.526 | 0.375861065471 | gnomAD-4.0.0 | 4.33898E-06 | None | None | None | None | N | None | 2.67094E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54338E-06 | 1.09806E-05 | 1.60143E-05 |
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 | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| N/C | 0.9723 | likely_pathogenic | 0.9704 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| N/D | 0.9966 | likely_pathogenic | 0.9954 | pathogenic | -2.335 | Highly Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.519750656 | None | None | N |
| N/E | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.196 | Highly Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| N/G | 0.9929 | likely_pathogenic | 0.9917 | pathogenic | -0.541 | Destabilizing | 0.999 | D | 0.547 | neutral | None | None | None | None | N |
| N/H | 0.9903 | likely_pathogenic | 0.9878 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.552858521 | None | None | N |
| N/I | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | 0.383 | Stabilizing | 1.0 | D | 0.766 | deleterious | D | 0.5533655 | None | None | N |
| N/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.552098052 | None | None | N |
| N/L | 0.9868 | likely_pathogenic | 0.9865 | pathogenic | 0.383 | Stabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| N/M | 0.9971 | likely_pathogenic | 0.997 | pathogenic | 0.511 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/P | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/Q | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| N/R | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| N/S | 0.8811 | likely_pathogenic | 0.8558 | pathogenic | -0.771 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.499111506 | None | None | N |
| N/T | 0.9798 | likely_pathogenic | 0.9753 | pathogenic | -0.5 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | N | 0.507399484 | None | None | N |
| N/V | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/Y | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.55311201 | 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.