Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31854 | 95785;95786;95787 | chr2:178545550;178545549;178545548 | chr2:179410277;179410276;179410275 |
| N2AB | 30213 | 90862;90863;90864 | chr2:178545550;178545549;178545548 | chr2:179410277;179410276;179410275 |
| N2A | 29286 | 88081;88082;88083 | chr2:178545550;178545549;178545548 | chr2:179410277;179410276;179410275 |
| N2B | 22789 | 68590;68591;68592 | chr2:178545550;178545549;178545548 | chr2:179410277;179410276;179410275 |
| Novex-1 | 22914 | 68965;68966;68967 | chr2:178545550;178545549;178545548 | chr2:179410277;179410276;179410275 |
| Novex-2 | 22981 | 69166;69167;69168 | chr2:178545550;178545549;178545548 | chr2:179410277;179410276;179410275 |
| 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/C | rs752756889  |
-1.434 | 1.0 | D | 0.797 | 0.702 | 0.474954162714 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| W/C | rs752756889 |
-1.434 | 1.0 | D | 0.797 | 0.702 | 0.474954162714 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/C | rs752756889 |
-1.434 | 1.0 | D | 0.797 | 0.702 | 0.474954162714 | gnomAD-4.0.0 | 8.96879E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.67538E-05 | 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 | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -2.709 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/C | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.557018669 | None | None | N |
| W/D | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/F | 0.7957 | likely_pathogenic | 0.8196 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| W/G | 0.9901 | likely_pathogenic | 0.9915 | pathogenic | -2.898 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.544648405 | None | None | N |
| W/H | 0.9961 | likely_pathogenic | 0.9969 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| W/I | 0.9955 | likely_pathogenic | 0.996 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/L | 0.9888 | likely_pathogenic | 0.9892 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.532367047 | None | None | N |
| W/M | 0.9963 | likely_pathogenic | 0.9965 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/N | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/P | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.55651169 | None | None | N |
| W/S | 0.9952 | likely_pathogenic | 0.996 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.554483773 | None | None | N |
| W/T | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/V | 0.9953 | likely_pathogenic | 0.9959 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/Y | 0.9284 | likely_pathogenic | 0.9338 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.608 | 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.