Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20408 | 61447;61448;61449 | chr2:178590503;178590502;178590501 | chr2:179455230;179455229;179455228 |
| N2AB | 18767 | 56524;56525;56526 | chr2:178590503;178590502;178590501 | chr2:179455230;179455229;179455228 |
| N2A | 17840 | 53743;53744;53745 | chr2:178590503;178590502;178590501 | chr2:179455230;179455229;179455228 |
| N2B | 11343 | 34252;34253;34254 | chr2:178590503;178590502;178590501 | chr2:179455230;179455229;179455228 |
| Novex-1 | 11468 | 34627;34628;34629 | chr2:178590503;178590502;178590501 | chr2:179455230;179455229;179455228 |
| Novex-2 | 11535 | 34828;34829;34830 | chr2:178590503;178590502;178590501 | chr2:179455230;179455229;179455228 |
| 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 | rs753847129  |
-2.485 | 0.999 | D | 0.615 | 0.52 | 0.772467084153 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63538E-04 | None | 0 | 0 | 0 |
| V/A | rs753847129 |
-2.485 | 0.999 | D | 0.615 | 0.52 | 0.772467084153 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07727E-04 | 0 |
| V/A | rs753847129 |
-2.485 | 0.999 | D | 0.615 | 0.52 | 0.772467084153 | gnomAD-4.0.0 | 6.81955E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20866E-04 | 0 |
| V/G | None | None | 1.0 | D | 0.886 | 0.655 | 0.890858236123 | gnomAD-4.0.0 | 6.8446E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99734E-07 | 0 | 0 |
| V/M | rs2049977435 |
None | 1.0 | N | 0.731 | 0.464 | 0.724580621126 | 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/M | rs2049977435 |
None | 1.0 | N | 0.731 | 0.464 | 0.724580621126 | gnomAD-4.0.0 | 4.06048E-06 | None | None | None | None | N | None | 1.74795E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61504E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8882 | likely_pathogenic | 0.8424 | pathogenic | -2.258 | Highly Destabilizing | 0.999 | D | 0.615 | neutral | D | 0.532095964 | None | None | N |
| V/C | 0.9867 | likely_pathogenic | 0.9835 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| V/D | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -3.38 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/E | 0.9965 | likely_pathogenic | 0.9953 | pathogenic | -3.046 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.550960688 | None | None | N |
| V/F | 0.9515 | likely_pathogenic | 0.9383 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/G | 0.9773 | likely_pathogenic | 0.9667 | pathogenic | -2.871 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.550960688 | None | None | N |
| V/H | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.887 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| V/I | 0.1046 | likely_benign | 0.1143 | benign | -0.458 | Destabilizing | 0.998 | D | 0.585 | neutral | None | None | None | None | N |
| V/K | 0.9974 | likely_pathogenic | 0.9967 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/L | 0.6825 | likely_pathogenic | 0.6094 | pathogenic | -0.458 | Destabilizing | 0.997 | D | 0.629 | neutral | N | 0.495325088 | None | None | N |
| V/M | 0.8168 | likely_pathogenic | 0.7865 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.516220208 | None | None | N |
| V/N | 0.9981 | likely_pathogenic | 0.9973 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/P | 0.9949 | likely_pathogenic | 0.9946 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/Q | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -2.246 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/R | 0.9944 | likely_pathogenic | 0.9925 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/S | 0.988 | likely_pathogenic | 0.9835 | pathogenic | -3.099 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/T | 0.9283 | likely_pathogenic | 0.9054 | pathogenic | -2.6 | Highly Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| V/W | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/Y | 0.9974 | likely_pathogenic | 0.9966 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.815 | 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.