Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2927 | 9004;9005;9006 | chr2:178769802;178769801;178769800 | chr2:179634529;179634528;179634527 |
| N2AB | 2927 | 9004;9005;9006 | chr2:178769802;178769801;178769800 | chr2:179634529;179634528;179634527 |
| N2A | 2927 | 9004;9005;9006 | chr2:178769802;178769801;178769800 | chr2:179634529;179634528;179634527 |
| N2B | 2881 | 8866;8867;8868 | chr2:178769802;178769801;178769800 | chr2:179634529;179634528;179634527 |
| Novex-1 | 2881 | 8866;8867;8868 | chr2:178769802;178769801;178769800 | chr2:179634529;179634528;179634527 |
| Novex-2 | 2881 | 8866;8867;8868 | chr2:178769802;178769801;178769800 | chr2:179634529;179634528;179634527 |
| Novex-3 | 2927 | 9004;9005;9006 | chr2:178769802;178769801;178769800 | chr2:179634529;179634528;179634527 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs2091198989  |
None | 1.0 | D | 0.77 | 0.683 | 0.838527088331 | gnomAD-4.0.0 | 3.18094E-06 | None | None | None | None | N | None | 0 | 4.57247E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9816 | likely_pathogenic | 0.9776 | pathogenic | -2.582 | Highly Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| F/C | 0.7549 | likely_pathogenic | 0.7057 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.513471644 | None | None | N |
| F/D | 0.9937 | likely_pathogenic | 0.9939 | pathogenic | -2.581 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/E | 0.9905 | likely_pathogenic | 0.9902 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/G | 0.9905 | likely_pathogenic | 0.9905 | pathogenic | -3.035 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| F/H | 0.9001 | likely_pathogenic | 0.9151 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| F/I | 0.8309 | likely_pathogenic | 0.7243 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.470801149 | None | None | N |
| F/K | 0.9926 | likely_pathogenic | 0.9918 | pathogenic | -2.008 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/L | 0.9862 | likely_pathogenic | 0.9792 | pathogenic | -1.133 | Destabilizing | 0.999 | D | 0.499 | neutral | N | 0.510286327 | None | None | N |
| F/M | 0.9143 | likely_pathogenic | 0.8993 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| F/N | 0.9556 | likely_pathogenic | 0.9595 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| F/Q | 0.9819 | likely_pathogenic | 0.9814 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/R | 0.9796 | likely_pathogenic | 0.9777 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/S | 0.9625 | likely_pathogenic | 0.9616 | pathogenic | -3.149 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.533736486 | None | None | N |
| F/T | 0.9675 | likely_pathogenic | 0.9625 | pathogenic | -2.831 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| F/V | 0.808 | likely_pathogenic | 0.7245 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.504339906 | None | None | N |
| F/W | 0.7847 | likely_pathogenic | 0.7983 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| F/Y | 0.2025 | likely_benign | 0.2138 | benign | -0.59 | Destabilizing | 0.999 | D | 0.489 | neutral | N | 0.440945156 | 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.