Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18069 | 54430;54431;54432 | chr2:178604884;178604883;178604882 | chr2:179469611;179469610;179469609 |
| N2AB | 16428 | 49507;49508;49509 | chr2:178604884;178604883;178604882 | chr2:179469611;179469610;179469609 |
| N2A | 15501 | 46726;46727;46728 | chr2:178604884;178604883;178604882 | chr2:179469611;179469610;179469609 |
| N2B | 9004 | 27235;27236;27237 | chr2:178604884;178604883;178604882 | chr2:179469611;179469610;179469609 |
| Novex-1 | 9129 | 27610;27611;27612 | chr2:178604884;178604883;178604882 | chr2:179469611;179469610;179469609 |
| Novex-2 | 9196 | 27811;27812;27813 | chr2:178604884;178604883;178604882 | chr2:179469611;179469610;179469609 |
| 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/L | rs2054408175  |
None | 1.0 | D | 0.909 | 0.742 | 0.701073398044 | gnomAD-4.0.0 | 6.85105E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00236E-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 | 0.7803 | likely_pathogenic | 0.8142 | pathogenic | -2.441 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.57724303 | None | None | N |
| P/C | 0.9359 | likely_pathogenic | 0.9502 | pathogenic | -2.242 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.463 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -3.235 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/F | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/G | 0.9929 | likely_pathogenic | 0.9937 | pathogenic | -2.935 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/H | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/I | 0.9042 | likely_pathogenic | 0.9196 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/L | 0.9135 | likely_pathogenic | 0.9309 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.628521057 | None | None | N |
| P/M | 0.9842 | likely_pathogenic | 0.9868 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.458 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/Q | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -2.254 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.612501696 | None | None | N |
| P/R | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.628722861 | None | None | N |
| P/S | 0.979 | likely_pathogenic | 0.9842 | pathogenic | -2.955 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.612501696 | None | None | N |
| P/T | 0.9561 | likely_pathogenic | 0.9612 | pathogenic | -2.605 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.60318475 | None | None | N |
| P/V | 0.7272 | likely_pathogenic | 0.7565 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.92 | 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.