Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17866 | 53821;53822;53823 | chr2:178605699;178605698;178605697 | chr2:179470426;179470425;179470424 |
| N2AB | 16225 | 48898;48899;48900 | chr2:178605699;178605698;178605697 | chr2:179470426;179470425;179470424 |
| N2A | 15298 | 46117;46118;46119 | chr2:178605699;178605698;178605697 | chr2:179470426;179470425;179470424 |
| N2B | 8801 | 26626;26627;26628 | chr2:178605699;178605698;178605697 | chr2:179470426;179470425;179470424 |
| Novex-1 | 8926 | 27001;27002;27003 | chr2:178605699;178605698;178605697 | chr2:179470426;179470425;179470424 |
| Novex-2 | 8993 | 27202;27203;27204 | chr2:178605699;178605698;178605697 | chr2:179470426;179470425;179470424 |
| 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 | rs1220657053  |
-0.772 | 1.0 | D | 0.921 | 0.656 | 0.858027220711 | gnomAD-2.1.1 | 4.75E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.21E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1220657053 |
-0.772 | 1.0 | D | 0.921 | 0.656 | 0.858027220711 | gnomAD-4.0.0 | 1.79469E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.33356E-05 |
| P/T | rs897867061 |
-2.664 | 1.0 | D | 0.875 | 0.716 | 0.731806583264 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3E-05 | 0 |
| P/T | rs897867061 |
-2.664 | 1.0 | D | 0.875 | 0.716 | 0.731806583264 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/T | rs897867061 |
-2.664 | 1.0 | D | 0.875 | 0.716 | 0.731806583264 | gnomAD-4.0.0 | 1.12818E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.10816E-05 | 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 | 0.91 | likely_pathogenic | 0.8744 | pathogenic | -2.328 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.525217246 | None | None | N |
| P/C | 0.9884 | likely_pathogenic | 0.984 | pathogenic | -2.67 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.455 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/E | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -3.226 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| P/G | 0.9952 | likely_pathogenic | 0.9933 | pathogenic | -2.824 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/H | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.406 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/I | 0.9611 | likely_pathogenic | 0.9643 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/L | 0.9688 | likely_pathogenic | 0.9632 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.545029794 | None | None | N |
| P/M | 0.9936 | likely_pathogenic | 0.992 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.452 | Highly Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| P/Q | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -2.289 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.55832511 | None | None | N |
| P/R | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.943 | deleterious | D | 0.557818131 | None | None | N |
| P/S | 0.9926 | likely_pathogenic | 0.9899 | pathogenic | -2.978 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.558071621 | None | None | N |
| P/T | 0.9676 | likely_pathogenic | 0.9605 | pathogenic | -2.608 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.557311152 | None | None | N |
| P/V | 0.8691 | likely_pathogenic | 0.8733 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.489 | 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.