Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2827 | 8704;8705;8706 | chr2:178770222;178770221;178770220 | chr2:179634949;179634948;179634947 |
| N2AB | 2827 | 8704;8705;8706 | chr2:178770222;178770221;178770220 | chr2:179634949;179634948;179634947 |
| N2A | 2827 | 8704;8705;8706 | chr2:178770222;178770221;178770220 | chr2:179634949;179634948;179634947 |
| N2B | 2781 | 8566;8567;8568 | chr2:178770222;178770221;178770220 | chr2:179634949;179634948;179634947 |
| Novex-1 | 2781 | 8566;8567;8568 | chr2:178770222;178770221;178770220 | chr2:179634949;179634948;179634947 |
| Novex-2 | 2781 | 8566;8567;8568 | chr2:178770222;178770221;178770220 | chr2:179634949;179634948;179634947 |
| Novex-3 | 2827 | 8704;8705;8706 | chr2:178770222;178770221;178770220 | chr2:179634949;179634948;179634947 |
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 | 0.811 | 0.938 | 0.921173998916 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| W/L | None | None | 1.0 | D | 0.806 | 0.882 | 0.955322292483 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -3.159 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/C | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.709629541 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.585 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.459 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/F | 0.7841 | likely_pathogenic | 0.7806 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| W/G | 0.9901 | likely_pathogenic | 0.9908 | pathogenic | -3.407 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.709638289 | None | None | N |
| W/H | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/I | 0.9827 | likely_pathogenic | 0.9848 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/L | 0.9633 | likely_pathogenic | 0.9668 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.709638289 | None | None | N |
| W/M | 0.9944 | likely_pathogenic | 0.9952 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| W/N | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.584 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.553 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.349 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.667 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.709629541 | None | None | N |
| W/S | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -3.687 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.709629541 | None | None | N |
| W/T | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -3.485 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/V | 0.9877 | likely_pathogenic | 0.9892 | pathogenic | -2.553 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/Y | 0.9276 | likely_pathogenic | 0.9333 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.774 | 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.