Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21678 | 65257;65258;65259 | chr2:178584519;178584518;178584517 | chr2:179449246;179449245;179449244 |
| N2AB | 20037 | 60334;60335;60336 | chr2:178584519;178584518;178584517 | chr2:179449246;179449245;179449244 |
| N2A | 19110 | 57553;57554;57555 | chr2:178584519;178584518;178584517 | chr2:179449246;179449245;179449244 |
| N2B | 12613 | 38062;38063;38064 | chr2:178584519;178584518;178584517 | chr2:179449246;179449245;179449244 |
| Novex-1 | 12738 | 38437;38438;38439 | chr2:178584519;178584518;178584517 | chr2:179449246;179449245;179449244 |
| Novex-2 | 12805 | 38638;38639;38640 | chr2:178584519;178584518;178584517 | chr2:179449246;179449245;179449244 |
| 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 | rs570562262  |
-0.474 | 0.248 | N | 0.223 | 0.16 | 0.415820034956 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.83E-05 | None | 0 | 0 | 0 |
| V/I | rs570562262 |
-0.474 | 0.248 | N | 0.223 | 0.16 | 0.415820034956 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| V/I | rs570562262 |
-0.474 | 0.248 | N | 0.223 | 0.16 | 0.415820034956 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/I | rs570562262 |
-0.474 | 0.248 | N | 0.223 | 0.16 | 0.415820034956 | gnomAD-4.0.0 | 8.67933E-06 | None | None | None | None | N | None | 1.33369E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.42885E-04 | 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 | 0.7905 | likely_pathogenic | 0.7999 | pathogenic | -2.126 | Highly Destabilizing | 0.954 | D | 0.688 | prob.neutral | N | 0.479210052 | None | None | N |
| V/C | 0.9573 | likely_pathogenic | 0.9555 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| V/D | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -3.239 | Highly Destabilizing | 0.998 | D | 0.874 | deleterious | N | 0.502936621 | None | None | N |
| V/E | 0.9931 | likely_pathogenic | 0.9926 | pathogenic | -2.917 | Highly Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/F | 0.7884 | likely_pathogenic | 0.7815 | pathogenic | -1.236 | Destabilizing | 0.989 | D | 0.754 | deleterious | N | 0.478449584 | None | None | N |
| V/G | 0.9508 | likely_pathogenic | 0.9484 | pathogenic | -2.721 | Highly Destabilizing | 0.998 | D | 0.841 | deleterious | N | 0.502936621 | None | None | N |
| V/H | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -2.765 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/I | 0.0912 | likely_benign | 0.0894 | benign | -0.392 | Destabilizing | 0.248 | N | 0.223 | neutral | N | 0.434246839 | None | None | N |
| V/K | 0.995 | likely_pathogenic | 0.9945 | pathogenic | -1.765 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| V/L | 0.3206 | likely_benign | 0.2957 | benign | -0.392 | Destabilizing | 0.031 | N | 0.257 | neutral | N | 0.369378923 | None | None | N |
| V/M | 0.5894 | likely_pathogenic | 0.5638 | ambiguous | -0.589 | Destabilizing | 0.991 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/N | 0.9942 | likely_pathogenic | 0.9937 | pathogenic | -2.49 | Highly Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
| V/P | 0.9831 | likely_pathogenic | 0.9832 | pathogenic | -0.953 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| V/Q | 0.9899 | likely_pathogenic | 0.9885 | pathogenic | -2.106 | Highly Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| V/R | 0.989 | likely_pathogenic | 0.9882 | pathogenic | -1.943 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| V/S | 0.9686 | likely_pathogenic | 0.9699 | pathogenic | -2.92 | Highly Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| V/T | 0.8596 | likely_pathogenic | 0.8699 | pathogenic | -2.443 | Highly Destabilizing | 0.985 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/W | 0.9968 | likely_pathogenic | 0.9966 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/Y | 0.9873 | likely_pathogenic | 0.9864 | pathogenic | -1.489 | Destabilizing | 0.999 | D | 0.755 | 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.