Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27709 | 83350;83351;83352 | chr2:178563007;178563006;178563005 | chr2:179427734;179427733;179427732 |
| N2AB | 26068 | 78427;78428;78429 | chr2:178563007;178563006;178563005 | chr2:179427734;179427733;179427732 |
| N2A | 25141 | 75646;75647;75648 | chr2:178563007;178563006;178563005 | chr2:179427734;179427733;179427732 |
| N2B | 18644 | 56155;56156;56157 | chr2:178563007;178563006;178563005 | chr2:179427734;179427733;179427732 |
| Novex-1 | 18769 | 56530;56531;56532 | chr2:178563007;178563006;178563005 | chr2:179427734;179427733;179427732 |
| Novex-2 | 18836 | 56731;56732;56733 | chr2:178563007;178563006;178563005 | chr2:179427734;179427733;179427732 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.828 | 0.847 | 0.762902998451 | gnomAD-4.0.0 | 1.59151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -2.656 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/C | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.707708745 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.97 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.834 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/F | 0.8658 | likely_pathogenic | 0.8743 | pathogenic | -1.615 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/G | 0.9931 | likely_pathogenic | 0.9923 | pathogenic | -2.917 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.707506941 | None | None | N |
| W/H | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/I | 0.9899 | likely_pathogenic | 0.9899 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/L | 0.9804 | likely_pathogenic | 0.9799 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.707506941 | None | None | N |
| W/M | 0.9954 | likely_pathogenic | 0.9954 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.278 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.987 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.487 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.707708745 | None | None | N |
| W/S | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -3.437 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.707708745 | None | None | N |
| W/T | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -3.225 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/V | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/Y | 0.9697 | likely_pathogenic | 0.9701 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.82 | 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.