Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32223 | 96892;96893;96894 | chr2:178543306;178543305;178543304 | chr2:179408033;179408032;179408031 |
| N2AB | 30582 | 91969;91970;91971 | chr2:178543306;178543305;178543304 | chr2:179408033;179408032;179408031 |
| N2A | 29655 | 89188;89189;89190 | chr2:178543306;178543305;178543304 | chr2:179408033;179408032;179408031 |
| N2B | 23158 | 69697;69698;69699 | chr2:178543306;178543305;178543304 | chr2:179408033;179408032;179408031 |
| Novex-1 | 23283 | 70072;70073;70074 | chr2:178543306;178543305;178543304 | chr2:179408033;179408032;179408031 |
| Novex-2 | 23350 | 70273;70274;70275 | chr2:178543306;178543305;178543304 | chr2:179408033;179408032;179408031 |
| 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 | None | None | 1.0 | D | 0.759 | 0.854 | 0.820976921018 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.976 | likely_pathogenic | 0.9824 | pathogenic | -2.985 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| W/C | 0.9914 | likely_pathogenic | 0.9933 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.6637029 | None | None | N |
| W/D | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.679 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/E | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -3.551 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/F | 0.6023 | likely_pathogenic | 0.6257 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/G | 0.9355 | likely_pathogenic | 0.9512 | pathogenic | -3.236 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.6637029 | None | None | N |
| W/H | 0.9953 | likely_pathogenic | 0.9967 | pathogenic | -2.745 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| W/I | 0.9734 | likely_pathogenic | 0.9805 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/K | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.805 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| W/L | 0.9205 | likely_pathogenic | 0.9373 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.646442353 | None | None | N |
| W/M | 0.9751 | likely_pathogenic | 0.9821 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| W/N | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -3.6 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/P | 0.9976 | likely_pathogenic | 0.9987 | pathogenic | -2.377 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/Q | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -3.323 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/R | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -2.783 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.6637029 | None | None | N |
| W/S | 0.9818 | likely_pathogenic | 0.9867 | pathogenic | -3.61 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.6637029 | None | None | N |
| W/T | 0.9867 | likely_pathogenic | 0.9916 | pathogenic | -3.398 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| W/V | 0.9603 | likely_pathogenic | 0.9721 | pathogenic | -2.377 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/Y | 0.928 | likely_pathogenic | 0.9408 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.799 | 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.