Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16059 | 48400;48401;48402 | chr2:178616616;178616615;178616614 | chr2:179481343;179481342;179481341 |
| N2AB | 14418 | 43477;43478;43479 | chr2:178616616;178616615;178616614 | chr2:179481343;179481342;179481341 |
| N2A | 13491 | 40696;40697;40698 | chr2:178616616;178616615;178616614 | chr2:179481343;179481342;179481341 |
| N2B | 6994 | 21205;21206;21207 | chr2:178616616;178616615;178616614 | chr2:179481343;179481342;179481341 |
| Novex-1 | 7119 | 21580;21581;21582 | chr2:178616616;178616615;178616614 | chr2:179481343;179481342;179481341 |
| Novex-2 | 7186 | 21781;21782;21783 | chr2:178616616;178616615;178616614 | chr2:179481343;179481342;179481341 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 1.0 | D | 0.889 | 0.769 | 0.74081485506 | gnomAD-4.0.0 | 1.59465E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78707E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs2057387572  |
None | 1.0 | D | 0.923 | 0.77 | 0.835635117845 | gnomAD-3.1.2 | 6.6E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs2057387572 |
None | 1.0 | D | 0.923 | 0.77 | 0.835635117845 | gnomAD-4.0.0 | 6.5957E-06 | None | None | None | None | N | None | 2.42166E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.894 | 0.773 | 0.655933709859 | gnomAD-4.0.0 | 1.36966E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80007E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.883 | 0.774 | 0.676953639617 | gnomAD-4.0.0 | 6.84832E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00035E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5663 | likely_pathogenic | 0.6307 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.697222819 | None | None | N |
| P/C | 0.8032 | likely_pathogenic | 0.8442 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/D | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -3.331 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/E | 0.9946 | likely_pathogenic | 0.9967 | pathogenic | -3.087 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/F | 0.9957 | likely_pathogenic | 0.9972 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| P/G | 0.9702 | likely_pathogenic | 0.9799 | pathogenic | -2.715 | Highly Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| P/H | 0.994 | likely_pathogenic | 0.9961 | pathogenic | -2.54 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.804658997 | None | None | N |
| P/I | 0.7962 | likely_pathogenic | 0.8374 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | None | None | N |
| P/K | 0.997 | likely_pathogenic | 0.9982 | pathogenic | -1.83 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/L | 0.7654 | likely_pathogenic | 0.8038 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.770487451 | None | None | N |
| P/M | 0.9416 | likely_pathogenic | 0.9579 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/N | 0.9954 | likely_pathogenic | 0.9972 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| P/Q | 0.9864 | likely_pathogenic | 0.9912 | pathogenic | -2.071 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/R | 0.9896 | likely_pathogenic | 0.9928 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.944 | deleterious | D | 0.804598998 | None | None | N |
| P/S | 0.939 | likely_pathogenic | 0.9571 | pathogenic | -2.8 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.770487451 | None | None | N |
| P/T | 0.8248 | likely_pathogenic | 0.8678 | pathogenic | -2.428 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.769808151 | None | None | N |
| P/V | 0.5468 | ambiguous | 0.6052 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/W | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/Y | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.936 | 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.