Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20556 | 61891;61892;61893 | chr2:178590059;178590058;178590057 | chr2:179454786;179454785;179454784 |
| N2AB | 18915 | 56968;56969;56970 | chr2:178590059;178590058;178590057 | chr2:179454786;179454785;179454784 |
| N2A | 17988 | 54187;54188;54189 | chr2:178590059;178590058;178590057 | chr2:179454786;179454785;179454784 |
| N2B | 11491 | 34696;34697;34698 | chr2:178590059;178590058;178590057 | chr2:179454786;179454785;179454784 |
| Novex-1 | 11616 | 35071;35072;35073 | chr2:178590059;178590058;178590057 | chr2:179454786;179454785;179454784 |
| Novex-2 | 11683 | 35272;35273;35274 | chr2:178590059;178590058;178590057 | chr2:179454786;179454785;179454784 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1199461867  |
-0.486 | 1.0 | D | 0.855 | 0.693 | 0.704066427429 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/E | rs1199461867 |
-0.486 | 1.0 | D | 0.855 | 0.693 | 0.704066427429 | gnomAD-4.0.0 | 3.18535E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72082E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7772 | likely_pathogenic | 0.8872 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.581798831 | None | None | I |
| G/C | 0.8806 | likely_pathogenic | 0.9585 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/D | 0.9573 | likely_pathogenic | 0.9843 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/E | 0.9699 | likely_pathogenic | 0.99 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.546501506 | None | None | I |
| G/F | 0.9849 | likely_pathogenic | 0.9943 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/H | 0.9806 | likely_pathogenic | 0.994 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/I | 0.9797 | likely_pathogenic | 0.9936 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/K | 0.9806 | likely_pathogenic | 0.9933 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9777 | likely_pathogenic | 0.9912 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/M | 0.986 | likely_pathogenic | 0.9956 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/N | 0.956 | likely_pathogenic | 0.983 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9991 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/Q | 0.9589 | likely_pathogenic | 0.9856 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/R | 0.94 | likely_pathogenic | 0.9781 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.603359783 | None | None | I |
| G/S | 0.6449 | likely_pathogenic | 0.8265 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/T | 0.931 | likely_pathogenic | 0.975 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.9614 | likely_pathogenic | 0.9867 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.619984557 | None | None | I |
| G/W | 0.9769 | likely_pathogenic | 0.9923 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/Y | 0.9799 | likely_pathogenic | 0.9929 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
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.