Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20449 | 61570;61571;61572 | chr2:178590380;178590379;178590378 | chr2:179455107;179455106;179455105 |
| N2AB | 18808 | 56647;56648;56649 | chr2:178590380;178590379;178590378 | chr2:179455107;179455106;179455105 |
| N2A | 17881 | 53866;53867;53868 | chr2:178590380;178590379;178590378 | chr2:179455107;179455106;179455105 |
| N2B | 11384 | 34375;34376;34377 | chr2:178590380;178590379;178590378 | chr2:179455107;179455106;179455105 |
| Novex-1 | 11509 | 34750;34751;34752 | chr2:178590380;178590379;178590378 | chr2:179455107;179455106;179455105 |
| Novex-2 | 11576 | 34951;34952;34953 | chr2:178590380;178590379;178590378 | chr2:179455107;179455106;179455105 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 1.0 | D | 0.851 | 0.645 | 0.685599082871 | gnomAD-4.0.0 | 1.64748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93907E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9646 | likely_pathogenic | 0.9622 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/D | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -2.958 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/E | 0.9979 | likely_pathogenic | 0.9972 | pathogenic | -2.756 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.565523451 | None | None | N |
| A/F | 0.9971 | likely_pathogenic | 0.996 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/G | 0.6613 | likely_pathogenic | 0.6197 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.634 | neutral | D | 0.533870391 | None | None | N |
| A/H | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/I | 0.9956 | likely_pathogenic | 0.9942 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.616 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/L | 0.9801 | likely_pathogenic | 0.9746 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/M | 0.9903 | likely_pathogenic | 0.9884 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/N | 0.9974 | likely_pathogenic | 0.9967 | pathogenic | -1.949 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/P | 0.9894 | likely_pathogenic | 0.9885 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.565016472 | None | None | N |
| A/Q | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/R | 0.9974 | likely_pathogenic | 0.9971 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/S | 0.6311 | likely_pathogenic | 0.5844 | pathogenic | -2.315 | Highly Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.507763965 | None | None | N |
| A/T | 0.9652 | likely_pathogenic | 0.9545 | pathogenic | -2.01 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.564256004 | None | None | N |
| A/V | 0.9672 | likely_pathogenic | 0.9602 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.545898259 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/Y | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.867 | 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.