Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16072 | 48439;48440;48441 | chr2:178616577;178616576;178616575 | chr2:179481304;179481303;179481302 |
| N2AB | 14431 | 43516;43517;43518 | chr2:178616577;178616576;178616575 | chr2:179481304;179481303;179481302 |
| N2A | 13504 | 40735;40736;40737 | chr2:178616577;178616576;178616575 | chr2:179481304;179481303;179481302 |
| N2B | 7007 | 21244;21245;21246 | chr2:178616577;178616576;178616575 | chr2:179481304;179481303;179481302 |
| Novex-1 | 7132 | 21619;21620;21621 | chr2:178616577;178616576;178616575 | chr2:179481304;179481303;179481302 |
| Novex-2 | 7199 | 21820;21821;21822 | chr2:178616577;178616576;178616575 | chr2:179481304;179481303;179481302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1259814759  |
-0.088 | 0.863 | N | 0.535 | 0.19 | 0.503248607038 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29769E-04 | 0 |
| V/I | rs1259814759 |
-0.088 | 0.863 | N | 0.535 | 0.19 | 0.503248607038 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs1259814759 |
-0.088 | 0.863 | N | 0.535 | 0.19 | 0.503248607038 | gnomAD-4.0.0 | 1.2405E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69636E-06 | 0 | 0 |
| V/L | None | None | 0.863 | N | 0.607 | 0.185 | 0.465975295344 | gnomAD-4.0.0 | 6.84744E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99999E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4137 | ambiguous | 0.4337 | ambiguous | -2.113 | Highly Destabilizing | 0.046 | N | 0.309 | neutral | N | 0.483919304 | None | None | N |
| V/C | 0.7372 | likely_pathogenic | 0.8002 | pathogenic | -1.958 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| V/D | 0.9953 | likely_pathogenic | 0.9947 | pathogenic | -3.064 | Highly Destabilizing | 0.993 | D | 0.868 | deleterious | None | None | None | None | N |
| V/E | 0.9873 | likely_pathogenic | 0.9856 | pathogenic | -2.741 | Highly Destabilizing | 0.982 | D | 0.854 | deleterious | D | 0.71881307 | None | None | N |
| V/F | 0.6123 | likely_pathogenic | 0.6364 | pathogenic | -1.242 | Destabilizing | 0.993 | D | 0.837 | deleterious | None | None | None | None | N |
| V/G | 0.7389 | likely_pathogenic | 0.7458 | pathogenic | -2.755 | Highly Destabilizing | 0.964 | D | 0.802 | deleterious | D | 0.680343917 | None | None | N |
| V/H | 0.9924 | likely_pathogenic | 0.9932 | pathogenic | -2.805 | Highly Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| V/I | 0.0892 | likely_benign | 0.0955 | benign | -0.257 | Destabilizing | 0.863 | D | 0.535 | neutral | N | 0.472248429 | None | None | N |
| V/K | 0.9885 | likely_pathogenic | 0.988 | pathogenic | -1.729 | Destabilizing | 0.986 | D | 0.862 | deleterious | None | None | None | None | N |
| V/L | 0.2753 | likely_benign | 0.3029 | benign | -0.257 | Destabilizing | 0.863 | D | 0.607 | neutral | N | 0.477582192 | None | None | N |
| V/M | 0.3503 | ambiguous | 0.381 | ambiguous | -0.648 | Destabilizing | 0.998 | D | 0.763 | deleterious | None | None | None | None | N |
| V/N | 0.9762 | likely_pathogenic | 0.9776 | pathogenic | -2.408 | Highly Destabilizing | 0.993 | D | 0.88 | deleterious | None | None | None | None | N |
| V/P | 0.9931 | likely_pathogenic | 0.9934 | pathogenic | -0.853 | Destabilizing | 0.993 | D | 0.868 | deleterious | None | None | None | None | N |
| V/Q | 0.9756 | likely_pathogenic | 0.9759 | pathogenic | -2.026 | Highly Destabilizing | 0.993 | D | 0.873 | deleterious | None | None | None | None | N |
| V/R | 0.9737 | likely_pathogenic | 0.9722 | pathogenic | -1.929 | Destabilizing | 0.993 | D | 0.873 | deleterious | None | None | None | None | N |
| V/S | 0.8367 | likely_pathogenic | 0.8501 | pathogenic | -2.993 | Highly Destabilizing | 0.973 | D | 0.821 | deleterious | None | None | None | None | N |
| V/T | 0.6829 | likely_pathogenic | 0.7154 | pathogenic | -2.488 | Highly Destabilizing | 0.953 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/W | 0.992 | likely_pathogenic | 0.9936 | pathogenic | -1.83 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| V/Y | 0.9589 | likely_pathogenic | 0.9662 | pathogenic | -1.44 | Destabilizing | 0.998 | D | 0.846 | 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.