Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1841 | 5746;5747;5748 | chr2:178776343;178776342;178776341 | chr2:179641070;179641069;179641068 |
| N2AB | 1841 | 5746;5747;5748 | chr2:178776343;178776342;178776341 | chr2:179641070;179641069;179641068 |
| N2A | 1841 | 5746;5747;5748 | chr2:178776343;178776342;178776341 | chr2:179641070;179641069;179641068 |
| N2B | 1795 | 5608;5609;5610 | chr2:178776343;178776342;178776341 | chr2:179641070;179641069;179641068 |
| Novex-1 | 1795 | 5608;5609;5610 | chr2:178776343;178776342;178776341 | chr2:179641070;179641069;179641068 |
| Novex-2 | 1795 | 5608;5609;5610 | chr2:178776343;178776342;178776341 | chr2:179641070;179641069;179641068 |
| Novex-3 | 1841 | 5746;5747;5748 | chr2:178776343;178776342;178776341 | chr2:179641070;179641069;179641068 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs2092223128  |
None | 1.0 | D | 0.82 | 0.754 | 0.53832913131 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| P/S | None | None | 1.0 | D | 0.882 | 0.758 | 0.571137827458 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85662E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.878 | 0.793 | 0.614346839077 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85662E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.661 | likely_pathogenic | 0.6253 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.690376425 | None | None | N |
| P/C | 0.9883 | likely_pathogenic | 0.9864 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/E | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -2.17 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/G | 0.9787 | likely_pathogenic | 0.9793 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/H | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/I | 0.9798 | likely_pathogenic | 0.9831 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/K | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/L | 0.9497 | likely_pathogenic | 0.9565 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.714833443 | None | None | N |
| P/M | 0.9898 | likely_pathogenic | 0.9901 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/N | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/Q | 0.9958 | likely_pathogenic | 0.9959 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.799681111 | None | None | N |
| P/R | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.799681111 | None | None | N |
| P/S | 0.9741 | likely_pathogenic | 0.9699 | pathogenic | -1.852 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.741987843 | None | None | N |
| P/T | 0.9489 | likely_pathogenic | 0.9494 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.799941153 | None | None | N |
| P/V | 0.9286 | likely_pathogenic | 0.9393 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.873 | 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.