Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26534 | 79825;79826;79827 | chr2:178566532;178566531;178566530 | chr2:179431259;179431258;179431257 |
| N2AB | 24893 | 74902;74903;74904 | chr2:178566532;178566531;178566530 | chr2:179431259;179431258;179431257 |
| N2A | 23966 | 72121;72122;72123 | chr2:178566532;178566531;178566530 | chr2:179431259;179431258;179431257 |
| N2B | 17469 | 52630;52631;52632 | chr2:178566532;178566531;178566530 | chr2:179431259;179431258;179431257 |
| Novex-1 | 17594 | 53005;53006;53007 | chr2:178566532;178566531;178566530 | chr2:179431259;179431258;179431257 |
| Novex-2 | 17661 | 53206;53207;53208 | chr2:178566532;178566531;178566530 | chr2:179431259;179431258;179431257 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1559352435  |
-0.791 | 1.0 | N | 0.746 | 0.669 | 0.621786299428 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.67E-05 | 0 | 0 |
| W/R | rs1559352435 |
-0.791 | 1.0 | N | 0.746 | 0.669 | 0.621786299428 | gnomAD-4.0.0 | 6.84341E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9951E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9349 | likely_pathogenic | 0.9425 | pathogenic | -2.799 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| W/C | 0.9697 | likely_pathogenic | 0.9715 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.497464167 | None | None | N |
| W/D | 0.9784 | likely_pathogenic | 0.984 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| W/E | 0.9816 | likely_pathogenic | 0.9867 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/F | 0.5249 | ambiguous | 0.5221 | ambiguous | -1.823 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| W/G | 0.7925 | likely_pathogenic | 0.8308 | pathogenic | -2.987 | Highly Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.539001821 | None | None | N |
| W/H | 0.9618 | likely_pathogenic | 0.9649 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| W/I | 0.9259 | likely_pathogenic | 0.936 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/K | 0.9923 | likely_pathogenic | 0.9939 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/L | 0.8559 | likely_pathogenic | 0.864 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.503247384 | None | None | N |
| W/M | 0.9311 | likely_pathogenic | 0.9345 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| W/N | 0.9696 | likely_pathogenic | 0.9738 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| W/P | 0.9493 | likely_pathogenic | 0.9589 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9904 | likely_pathogenic | 0.9913 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.9905 | likely_pathogenic | 0.9915 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.515782232 | None | None | N |
| W/S | 0.8897 | likely_pathogenic | 0.9043 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.526885047 | None | None | N |
| W/T | 0.9254 | likely_pathogenic | 0.9402 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/V | 0.9256 | likely_pathogenic | 0.9342 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/Y | 0.7086 | likely_pathogenic | 0.6901 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.611 | neutral | 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.