Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33180 | 99763;99764;99765 | chr2:178537669;178537668;178537667 | chr2:179402396;179402395;179402394 |
| N2AB | 31539 | 94840;94841;94842 | chr2:178537669;178537668;178537667 | chr2:179402396;179402395;179402394 |
| N2A | 30612 | 92059;92060;92061 | chr2:178537669;178537668;178537667 | chr2:179402396;179402395;179402394 |
| N2B | 24115 | 72568;72569;72570 | chr2:178537669;178537668;178537667 | chr2:179402396;179402395;179402394 |
| Novex-1 | 24240 | 72943;72944;72945 | chr2:178537669;178537668;178537667 | chr2:179402396;179402395;179402394 |
| Novex-2 | 24307 | 73144;73145;73146 | chr2:178537669;178537668;178537667 | chr2:179402396;179402395;179402394 |
| 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/R | None | None | 1.0 | D | 0.87 | 0.773 | 0.777805402551 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.8132 | likely_pathogenic | 0.8709 | pathogenic | -0.447 | Destabilizing | 0.999 | D | 0.763 | deleterious | D | 0.5892281 | None | None | I |
| G/C | 0.9648 | likely_pathogenic | 0.9786 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/D | 0.9535 | likely_pathogenic | 0.9728 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/E | 0.9758 | likely_pathogenic | 0.9879 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.539753556 | None | None | I |
| G/F | 0.9967 | likely_pathogenic | 0.9982 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/H | 0.9945 | likely_pathogenic | 0.9971 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9956 | likely_pathogenic | 0.9978 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/K | 0.9902 | likely_pathogenic | 0.9956 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/L | 0.9922 | likely_pathogenic | 0.9954 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/M | 0.9949 | likely_pathogenic | 0.9972 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/N | 0.9745 | likely_pathogenic | 0.9868 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Q | 0.9831 | likely_pathogenic | 0.9914 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/R | 0.9757 | likely_pathogenic | 0.9883 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.621700791 | None | None | I |
| G/S | 0.7532 | likely_pathogenic | 0.8557 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/T | 0.9631 | likely_pathogenic | 0.9784 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/V | 0.9882 | likely_pathogenic | 0.9941 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.647844315 | None | None | I |
| G/W | 0.9926 | likely_pathogenic | 0.9956 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/Y | 0.9945 | likely_pathogenic | 0.997 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.839 | 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.