Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1000 | 3223;3224;3225 | chr2:178782908;178782907;178782906 | chr2:179647635;179647634;179647633 |
| N2AB | 1000 | 3223;3224;3225 | chr2:178782908;178782907;178782906 | chr2:179647635;179647634;179647633 |
| N2A | 1000 | 3223;3224;3225 | chr2:178782908;178782907;178782906 | chr2:179647635;179647634;179647633 |
| N2B | 954 | 3085;3086;3087 | chr2:178782908;178782907;178782906 | chr2:179647635;179647634;179647633 |
| Novex-1 | 954 | 3085;3086;3087 | chr2:178782908;178782907;178782906 | chr2:179647635;179647634;179647633 |
| Novex-2 | 954 | 3085;3086;3087 | chr2:178782908;178782907;178782906 | chr2:179647635;179647634;179647633 |
| Novex-3 | 1000 | 3223;3224;3225 | chr2:178782908;178782907;178782906 | chr2:179647635;179647634;179647633 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs140953779  |
-1.831 | 0.999 | D | 0.781 | 0.492 | None | gnomAD-2.1.1 | 3.54E-05 | None | None | None | None | N | None | 4.00705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs140953779 |
-1.831 | 0.999 | D | 0.781 | 0.492 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 9.66E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs140953779 |
-1.831 | 0.999 | D | 0.781 | 0.492 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/F | rs140953779 |
-1.831 | 0.999 | D | 0.781 | 0.492 | None | gnomAD-4.0.0 | 1.40848E-05 | None | None | None | None | N | None | 1.68799E-04 | 1.69388E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9918 | likely_pathogenic | 0.9932 | pathogenic | -1.97 | Destabilizing | 0.997 | D | 0.75 | deleterious | None | None | None | None | N |
| L/C | 0.9861 | likely_pathogenic | 0.9869 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.69 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| L/E | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.367 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| L/F | 0.9176 | likely_pathogenic | 0.9241 | pathogenic | -1.239 | Destabilizing | 0.999 | D | 0.781 | deleterious | D | 0.672887041 | None | None | N |
| L/G | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -2.56 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| L/H | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -2.563 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.767297804 | None | None | N |
| L/I | 0.709 | likely_pathogenic | 0.7368 | pathogenic | -0.205 | Destabilizing | 0.992 | D | 0.659 | neutral | D | 0.660959013 | None | None | N |
| L/K | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| L/M | 0.5308 | ambiguous | 0.5562 | ambiguous | -0.411 | Destabilizing | 0.985 | D | 0.589 | neutral | None | None | None | None | N |
| L/N | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.218 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| L/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.92 | deleterious | D | 0.798564332 | None | None | N |
| L/Q | 0.9963 | likely_pathogenic | 0.9973 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| L/R | 0.9964 | likely_pathogenic | 0.9972 | pathogenic | -1.841 | Destabilizing | 0.999 | D | 0.905 | deleterious | D | 0.798564332 | None | None | N |
| L/S | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.715 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/T | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| L/V | 0.7788 | likely_pathogenic | 0.8064 | pathogenic | -0.782 | Destabilizing | 0.992 | D | 0.683 | prob.neutral | D | 0.647972349 | None | None | N |
| L/W | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| L/Y | 0.9958 | likely_pathogenic | 0.9962 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.851 | 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.