Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35903 | 107932;107933;107934 | chr2:178527281;178527280;178527279 | chr2:179392008;179392007;179392006 |
| N2AB | 34262 | 103009;103010;103011 | chr2:178527281;178527280;178527279 | chr2:179392008;179392007;179392006 |
| N2A | 33335 | 100228;100229;100230 | chr2:178527281;178527280;178527279 | chr2:179392008;179392007;179392006 |
| N2B | 26838 | 80737;80738;80739 | chr2:178527281;178527280;178527279 | chr2:179392008;179392007;179392006 |
| Novex-1 | 26963 | 81112;81113;81114 | chr2:178527281;178527280;178527279 | chr2:179392008;179392007;179392006 |
| Novex-2 | 27030 | 81313;81314;81315 | chr2:178527281;178527280;178527279 | chr2:179392008;179392007;179392006 |
| 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/S | rs1328551203  |
-2.145 | 0.989 | N | 0.787 | 0.347 | 0.273938319068 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | -0.443(OBSL1) -0.438(OBSCN) | I | None | 0 | 0 | None | 0 | 5.69E-05 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1328551203 |
-2.145 | 0.989 | N | 0.787 | 0.347 | 0.273938319068 | gnomAD-4.0.0 | 1.62802E-06 | None | None | None | -0.443(OBSL1) -0.438(OBSCN) | I | None | 0 | 0 | None | 0 | 2.79174E-05 | None | 0 | 0 | 0 | 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 | 0.7995 | likely_pathogenic | 0.714 | pathogenic | -0.679 | Destabilizing | 0.928 | D | 0.655 | neutral | N | 0.475307761 | None | -1.187(OBSL1) -0.893(OBSCN) | I |
| P/C | 0.99 | likely_pathogenic | 0.983 | pathogenic | -0.821 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | -0.18(OBSL1) -0.104(OBSCN) | I |
| P/D | 0.983 | likely_pathogenic | 0.9711 | pathogenic | -0.304 | Destabilizing | 0.997 | D | 0.829 | deleterious | None | None | None | -0.032(OBSL1) -0.69(OBSCN) | I |
| P/E | 0.964 | likely_pathogenic | 0.9404 | pathogenic | -0.362 | Destabilizing | 0.992 | D | 0.817 | deleterious | None | None | None | -0.028(OBSL1) -0.701(OBSCN) | I |
| P/F | 0.9913 | likely_pathogenic | 0.9835 | pathogenic | -0.638 | Destabilizing | 0.991 | D | 0.898 | deleterious | None | None | None | -0.377(OBSL1) 0.051(OBSCN) | I |
| P/G | 0.9584 | likely_pathogenic | 0.9337 | pathogenic | -0.888 | Destabilizing | 0.992 | D | 0.813 | deleterious | None | None | None | -1.229(OBSL1) -0.926(OBSCN) | I |
| P/H | 0.9491 | likely_pathogenic | 0.9149 | pathogenic | -0.46 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | -0.219(OBSL1) 0.36(OBSCN) | I |
| P/I | 0.9776 | likely_pathogenic | 0.9607 | pathogenic | -0.251 | Destabilizing | 0.968 | D | 0.857 | deleterious | None | None | None | -1.059(OBSL1) -0.791(OBSCN) | I |
| P/K | 0.9807 | likely_pathogenic | 0.965 | pathogenic | -0.693 | Destabilizing | 0.992 | D | 0.809 | deleterious | None | None | None | -0.788(OBSL1) -0.624(OBSCN) | I |
| P/L | 0.8269 | likely_pathogenic | 0.747 | pathogenic | -0.251 | Destabilizing | 0.085 | N | 0.593 | neutral | N | 0.503652917 | None | -1.059(OBSL1) -0.791(OBSCN) | I |
| P/M | 0.9817 | likely_pathogenic | 0.968 | pathogenic | -0.445 | Destabilizing | 0.996 | D | 0.872 | deleterious | None | None | None | -0.891(OBSL1) -0.225(OBSCN) | I |
| P/N | 0.983 | likely_pathogenic | 0.9708 | pathogenic | -0.487 | Destabilizing | 0.997 | D | 0.874 | deleterious | None | None | None | -0.448(OBSL1) -0.453(OBSCN) | I |
| P/Q | 0.9357 | likely_pathogenic | 0.892 | pathogenic | -0.633 | Destabilizing | 0.996 | D | 0.851 | deleterious | N | 0.489070376 | None | -0.363(OBSL1) -0.485(OBSCN) | I |
| P/R | 0.9417 | likely_pathogenic | 0.9027 | pathogenic | -0.271 | Destabilizing | 0.989 | D | 0.872 | deleterious | N | 0.470966121 | None | -1.108(OBSL1) -0.628(OBSCN) | I |
| P/S | 0.899 | likely_pathogenic | 0.8428 | pathogenic | -0.917 | Destabilizing | 0.989 | D | 0.787 | deleterious | N | 0.49001719 | None | -0.443(OBSL1) -0.438(OBSCN) | I |
| P/T | 0.9005 | likely_pathogenic | 0.8362 | pathogenic | -0.859 | Destabilizing | 0.978 | D | 0.789 | deleterious | N | 0.474244577 | None | -0.46(OBSL1) -0.46(OBSCN) | I |
| P/V | 0.9493 | likely_pathogenic | 0.9161 | pathogenic | -0.358 | Destabilizing | 0.968 | D | 0.783 | deleterious | None | None | None | -1.1(OBSL1) -0.825(OBSCN) | I |
| P/W | 0.996 | likely_pathogenic | 0.9925 | pathogenic | -0.764 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | -0.454(OBSL1) 0.171(OBSCN) | I |
| P/Y | 0.9904 | likely_pathogenic | 0.9822 | pathogenic | -0.462 | Destabilizing | 0.998 | D | 0.893 | deleterious | None | None | None | -0.483(OBSL1) 0.117(OBSCN) | I |
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.