Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31190 | 93793;93794;93795 | chr2:178548058;178548057;178548056 | chr2:179412785;179412784;179412783 |
| N2AB | 29549 | 88870;88871;88872 | chr2:178548058;178548057;178548056 | chr2:179412785;179412784;179412783 |
| N2A | 28622 | 86089;86090;86091 | chr2:178548058;178548057;178548056 | chr2:179412785;179412784;179412783 |
| N2B | 22125 | 66598;66599;66600 | chr2:178548058;178548057;178548056 | chr2:179412785;179412784;179412783 |
| Novex-1 | 22250 | 66973;66974;66975 | chr2:178548058;178548057;178548056 | chr2:179412785;179412784;179412783 |
| Novex-2 | 22317 | 67174;67175;67176 | chr2:178548058;178548057;178548056 | chr2:179412785;179412784;179412783 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs746309005  |
-0.412 | 1.0 | D | 0.767 | 0.546 | 0.191931220699 | gnomAD-2.1.1 | 1.5265E-04 | None | None | None | None | N | None | 0 | 9.27321E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 8.27541E-04 |
| N/K | rs746309005 |
-0.412 | 1.0 | D | 0.767 | 0.546 | 0.191931220699 | gnomAD-3.1.2 | 1.51173E-04 | None | None | None | None | N | None | 0 | 1.24525E-03 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| N/K | rs746309005 |
-0.412 | 1.0 | D | 0.767 | 0.546 | 0.191931220699 | gnomAD-4.0.0 | 4.58556E-05 | None | None | None | None | N | None | 0 | 9.67053E-04 | None | 0 | 0 | None | 0 | 0 | 1.10185E-05 | 0 | 4.80277E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | 0.007 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| N/C | 0.9826 | likely_pathogenic | 0.9826 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| N/D | 0.9927 | likely_pathogenic | 0.9907 | pathogenic | -2.312 | Highly Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.517940231 | None | None | N |
| N/E | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.171 | Highly Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| N/G | 0.9916 | likely_pathogenic | 0.9904 | pathogenic | -0.268 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| N/H | 0.9931 | likely_pathogenic | 0.9912 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.550883511 | None | None | N |
| N/I | 0.9968 | likely_pathogenic | 0.996 | pathogenic | 0.676 | Stabilizing | 1.0 | D | 0.767 | deleterious | D | 0.533286235 | None | None | N |
| N/K | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.767 | deleterious | D | 0.538766737 | None | None | N |
| N/L | 0.9918 | likely_pathogenic | 0.9905 | pathogenic | 0.676 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| N/M | 0.9955 | likely_pathogenic | 0.9945 | pathogenic | 0.828 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| N/P | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | 0.482 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| N/Q | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| N/R | 0.998 | likely_pathogenic | 0.9981 | pathogenic | 0.16 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| N/S | 0.9457 | likely_pathogenic | 0.9335 | pathogenic | -0.625 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.507834465 | None | None | N |
| N/T | 0.9757 | likely_pathogenic | 0.9734 | pathogenic | -0.35 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | N | 0.493245248 | None | None | N |
| N/V | 0.9954 | likely_pathogenic | 0.9944 | pathogenic | 0.482 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| N/Y | 0.996 | likely_pathogenic | 0.994 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.791 | deleterious | D | 0.539780695 | 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.