Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22139 | 66640;66641;66642 | chr2:178581954;178581953;178581952 | chr2:179446681;179446680;179446679 |
| N2AB | 20498 | 61717;61718;61719 | chr2:178581954;178581953;178581952 | chr2:179446681;179446680;179446679 |
| N2A | 19571 | 58936;58937;58938 | chr2:178581954;178581953;178581952 | chr2:179446681;179446680;179446679 |
| N2B | 13074 | 39445;39446;39447 | chr2:178581954;178581953;178581952 | chr2:179446681;179446680;179446679 |
| Novex-1 | 13199 | 39820;39821;39822 | chr2:178581954;178581953;178581952 | chr2:179446681;179446680;179446679 |
| Novex-2 | 13266 | 40021;40022;40023 | chr2:178581954;178581953;178581952 | chr2:179446681;179446680;179446679 |
| 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/D | rs1559507734  |
None | 1.0 | D | 0.875 | 0.717 | 0.569670436194 | gnomAD-4.0.0 | 8.21329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9968E-06 | 0 | 3.31488E-05 |
| G/R | rs774227311 |
-0.97 | 1.0 | N | 0.921 | 0.727 | 0.563655836063 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/R | rs774227311 |
-0.97 | 1.0 | N | 0.921 | 0.727 | 0.563655836063 | gnomAD-4.0.0 | 2.05331E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69903E-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 | 0.7246 | likely_pathogenic | 0.7067 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.53382703 | None | None | N |
| G/C | 0.9521 | likely_pathogenic | 0.9405 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.552945243 | None | None | N |
| G/D | 0.9922 | likely_pathogenic | 0.9878 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.552438264 | None | None | N |
| G/E | 0.9938 | likely_pathogenic | 0.9904 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| G/F | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/H | 0.9961 | likely_pathogenic | 0.9942 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.9967 | likely_pathogenic | 0.9956 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/K | 0.9986 | likely_pathogenic | 0.9978 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/L | 0.9943 | likely_pathogenic | 0.9924 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/M | 0.9963 | likely_pathogenic | 0.9955 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/N | 0.9912 | likely_pathogenic | 0.9872 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/Q | 0.9929 | likely_pathogenic | 0.9899 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| G/R | 0.9951 | likely_pathogenic | 0.9928 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.921 | deleterious | N | 0.521963745 | None | None | N |
| G/S | 0.4028 | ambiguous | 0.3604 | ambiguous | -1.153 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.463135312 | None | None | N |
| G/T | 0.945 | likely_pathogenic | 0.9293 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| G/V | 0.9905 | likely_pathogenic | 0.9876 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.552438264 | None | None | N |
| G/W | 0.9959 | likely_pathogenic | 0.994 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Y | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.875 | 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.