Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31117 | 93574;93575;93576 | chr2:178548277;178548276;178548275 | chr2:179413004;179413003;179413002 |
| N2AB | 29476 | 88651;88652;88653 | chr2:178548277;178548276;178548275 | chr2:179413004;179413003;179413002 |
| N2A | 28549 | 85870;85871;85872 | chr2:178548277;178548276;178548275 | chr2:179413004;179413003;179413002 |
| N2B | 22052 | 66379;66380;66381 | chr2:178548277;178548276;178548275 | chr2:179413004;179413003;179413002 |
| Novex-1 | 22177 | 66754;66755;66756 | chr2:178548277;178548276;178548275 | chr2:179413004;179413003;179413002 |
| Novex-2 | 22244 | 66955;66956;66957 | chr2:178548277;178548276;178548275 | chr2:179413004;179413003;179413002 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1185315737  |
-0.796 | 1.0 | D | 0.919 | 0.645 | 0.623027447215 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29651E-04 | 0 |
| P/L | rs1185315737 |
-0.796 | 1.0 | D | 0.919 | 0.645 | 0.623027447215 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs1185315737 |
-0.796 | 1.0 | D | 0.919 | 0.645 | 0.623027447215 | gnomAD-4.0.0 | 5.07492E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02463E-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 | 0.8226 | likely_pathogenic | 0.8043 | pathogenic | -2.539 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.520938058 | None | None | N |
| P/C | 0.9727 | likely_pathogenic | 0.9644 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.089 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/E | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -2.81 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/F | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| P/G | 0.9949 | likely_pathogenic | 0.9936 | pathogenic | -3.046 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/H | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | -2.618 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.567541822 | None | None | N |
| P/I | 0.8338 | likely_pathogenic | 0.836 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/L | 0.8749 | likely_pathogenic | 0.8659 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.547827724 | None | None | N |
| P/M | 0.9826 | likely_pathogenic | 0.9815 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -2.32 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| P/Q | 0.9963 | likely_pathogenic | 0.9947 | pathogenic | -1.992 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/R | 0.9973 | likely_pathogenic | 0.9957 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.941 | deleterious | D | 0.555678538 | None | None | N |
| P/S | 0.9845 | likely_pathogenic | 0.9795 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.540790287 | None | None | N |
| P/T | 0.9524 | likely_pathogenic | 0.9389 | pathogenic | -2.382 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.566527864 | None | None | N |
| P/V | 0.6459 | likely_pathogenic | 0.6412 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.94 | 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.