Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13854 | 41785;41786;41787 | chr2:178636011;178636010;178636009 | chr2:179500738;179500737;179500736 |
| N2AB | 12213 | 36862;36863;36864 | chr2:178636011;178636010;178636009 | chr2:179500738;179500737;179500736 |
| N2A | 11286 | 34081;34082;34083 | chr2:178636011;178636010;178636009 | chr2:179500738;179500737;179500736 |
| N2B | 4789 | 14590;14591;14592 | chr2:178636011;178636010;178636009 | chr2:179500738;179500737;179500736 |
| Novex-1 | 4914 | 14965;14966;14967 | chr2:178636011;178636010;178636009 | chr2:179500738;179500737;179500736 |
| Novex-2 | 4981 | 15166;15167;15168 | chr2:178636011;178636010;178636009 | chr2:179500738;179500737;179500736 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1180677279  |
None | 0.37 | N | 0.273 | 0.192 | 0.274366138417 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1180677279 |
None | 0.37 | N | 0.273 | 0.192 | 0.274366138417 | gnomAD-4.0.0 | 1.86197E-06 | None | None | None | None | N | None | 2.67294E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48839E-07 | 0 | 0 |
| V/M | None | None | 0.999 | N | 0.718 | 0.25 | 0.420939154896 | gnomAD-4.0.0 | 1.3702E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00489E-07 | 1.16195E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6761 | likely_pathogenic | 0.7098 | pathogenic | -1.942 | Destabilizing | 0.37 | N | 0.273 | neutral | N | 0.33244408 | None | None | N |
| V/C | 0.9718 | likely_pathogenic | 0.9744 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/D | 0.9937 | likely_pathogenic | 0.9939 | pathogenic | -2.075 | Highly Destabilizing | 0.998 | D | 0.901 | deleterious | None | None | None | None | N |
| V/E | 0.9854 | likely_pathogenic | 0.9849 | pathogenic | -1.905 | Destabilizing | 0.997 | D | 0.861 | deleterious | N | 0.411313542 | None | None | N |
| V/F | 0.929 | likely_pathogenic | 0.9255 | pathogenic | -1.146 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| V/G | 0.9207 | likely_pathogenic | 0.9174 | pathogenic | -2.456 | Highly Destabilizing | 0.987 | D | 0.803 | deleterious | N | 0.325506596 | None | None | N |
| V/H | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| V/I | 0.191 | likely_benign | 0.1788 | benign | -0.542 | Destabilizing | 0.98 | D | 0.52 | neutral | None | None | None | None | N |
| V/K | 0.9929 | likely_pathogenic | 0.9925 | pathogenic | -1.686 | Destabilizing | 0.995 | D | 0.862 | deleterious | None | None | None | None | N |
| V/L | 0.8357 | likely_pathogenic | 0.8351 | pathogenic | -0.542 | Destabilizing | 0.948 | D | 0.549 | neutral | N | 0.371568626 | None | None | N |
| V/M | 0.8207 | likely_pathogenic | 0.8084 | pathogenic | -0.673 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | N | 0.410745894 | None | None | N |
| V/N | 0.9881 | likely_pathogenic | 0.9876 | pathogenic | -1.829 | Destabilizing | 0.999 | D | 0.899 | deleterious | None | None | None | None | N |
| V/P | 0.9882 | likely_pathogenic | 0.9863 | pathogenic | -0.977 | Destabilizing | 0.998 | D | 0.846 | deleterious | None | None | None | None | N |
| V/Q | 0.9899 | likely_pathogenic | 0.9891 | pathogenic | -1.738 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| V/R | 0.9845 | likely_pathogenic | 0.984 | pathogenic | -1.458 | Destabilizing | 0.998 | D | 0.895 | deleterious | None | None | None | None | N |
| V/S | 0.92 | likely_pathogenic | 0.924 | pathogenic | -2.513 | Highly Destabilizing | 0.99 | D | 0.793 | deleterious | None | None | None | None | N |
| V/T | 0.8197 | likely_pathogenic | 0.8299 | pathogenic | -2.192 | Highly Destabilizing | 0.983 | D | 0.581 | neutral | None | None | None | None | N |
| V/W | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/Y | 0.9944 | likely_pathogenic | 0.9947 | pathogenic | -1.179 | Destabilizing | 0.999 | D | 0.785 | 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.