Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31844 | 95755;95756;95757 | chr2:178545580;178545579;178545578 | chr2:179410307;179410306;179410305 |
| N2AB | 30203 | 90832;90833;90834 | chr2:178545580;178545579;178545578 | chr2:179410307;179410306;179410305 |
| N2A | 29276 | 88051;88052;88053 | chr2:178545580;178545579;178545578 | chr2:179410307;179410306;179410305 |
| N2B | 22779 | 68560;68561;68562 | chr2:178545580;178545579;178545578 | chr2:179410307;179410306;179410305 |
| Novex-1 | 22904 | 68935;68936;68937 | chr2:178545580;178545579;178545578 | chr2:179410307;179410306;179410305 |
| Novex-2 | 22971 | 69136;69137;69138 | chr2:178545580;178545579;178545578 | chr2:179410307;179410306;179410305 |
| 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/A | rs776197188  |
-2.582 | 0.999 | D | 0.597 | 0.652 | 0.752541520907 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-06 | 0 |
| V/A | rs776197188 |
-2.582 | 0.999 | D | 0.597 | 0.652 | 0.752541520907 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs776197188 |
-2.582 | 0.999 | D | 0.597 | 0.652 | 0.752541520907 | gnomAD-4.0.0 | 4.33817E-06 | None | None | None | None | N | None | 2.67073E-05 | 1.667E-05 | None | 0 | 0 | None | 0 | 0 | 3.39061E-06 | 0 | 0 |
| V/I | None | None | 0.997 | N | 0.579 | 0.298 | 0.514643173473 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 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 | 0.6996 | likely_pathogenic | 0.7281 | pathogenic | -2.486 | Highly Destabilizing | 0.999 | D | 0.597 | neutral | D | 0.553491902 | None | None | N |
| V/C | 0.9613 | likely_pathogenic | 0.9652 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/D | 0.999 | likely_pathogenic | 0.999 | pathogenic | -3.416 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| V/E | 0.9961 | likely_pathogenic | 0.9959 | pathogenic | -3.085 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.55425237 | None | None | N |
| V/F | 0.8873 | likely_pathogenic | 0.8953 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/G | 0.953 | likely_pathogenic | 0.951 | pathogenic | -3.129 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.55425237 | None | None | N |
| V/H | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -3.027 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/I | 0.0902 | likely_benign | 0.0949 | benign | -0.616 | Destabilizing | 0.997 | D | 0.579 | neutral | N | 0.456955914 | None | None | N |
| V/K | 0.997 | likely_pathogenic | 0.997 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| V/L | 0.4506 | ambiguous | 0.469 | ambiguous | -0.616 | Destabilizing | 0.997 | D | 0.625 | neutral | N | 0.477816763 | None | None | N |
| V/M | 0.7304 | likely_pathogenic | 0.7414 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/N | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -2.838 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| V/P | 0.9867 | likely_pathogenic | 0.99 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| V/Q | 0.9954 | likely_pathogenic | 0.9953 | pathogenic | -2.458 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| V/R | 0.9931 | likely_pathogenic | 0.9932 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| V/S | 0.9749 | likely_pathogenic | 0.9768 | pathogenic | -3.41 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| V/T | 0.8164 | likely_pathogenic | 0.8444 | pathogenic | -2.902 | Highly Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| V/W | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/Y | 0.9926 | likely_pathogenic | 0.9932 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.865 | 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.