Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16474 | 49645;49646;49647 | chr2:178613863;178613862;178613861 | chr2:179478590;179478589;179478588 |
| N2AB | 14833 | 44722;44723;44724 | chr2:178613863;178613862;178613861 | chr2:179478590;179478589;179478588 |
| N2A | 13906 | 41941;41942;41943 | chr2:178613863;178613862;178613861 | chr2:179478590;179478589;179478588 |
| N2B | 7409 | 22450;22451;22452 | chr2:178613863;178613862;178613861 | chr2:179478590;179478589;179478588 |
| Novex-1 | 7534 | 22825;22826;22827 | chr2:178613863;178613862;178613861 | chr2:179478590;179478589;179478588 |
| Novex-2 | 7601 | 23026;23027;23028 | chr2:178613863;178613862;178613861 | chr2:179478590;179478589;179478588 |
| 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 | rs750487328  |
-0.682 | 1.0 | D | 0.901 | 0.599 | 0.899019198802 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/L | rs750487328 |
-0.682 | 1.0 | D | 0.901 | 0.599 | 0.899019198802 | gnomAD-4.0.0 | 6.84901E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00067E-07 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.894 | 0.598 | 0.844308500322 | gnomAD-4.0.0 | 2.0547E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32574E-05 | 1.65843E-05 |
| P/S | rs763053848 |
-2.16 | 1.0 | D | 0.869 | 0.534 | 0.616015083648 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| P/S | rs763053848 |
-2.16 | 1.0 | D | 0.869 | 0.534 | 0.616015083648 | gnomAD-4.0.0 | 5.47929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.30189E-05 | 0 |
| P/T | rs763053848 |
-2.019 | 1.0 | D | 0.868 | 0.559 | 0.794095434645 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/T | rs763053848 |
-2.019 | 1.0 | D | 0.868 | 0.559 | 0.794095434645 | gnomAD-4.0.0 | 6.84911E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0008E-07 | 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 | 0.9501 | likely_pathogenic | 0.9446 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.690778509 | None | None | N |
| P/C | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/E | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -2.578 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/G | 0.9931 | likely_pathogenic | 0.9909 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/H | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -2.137 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/I | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/K | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/L | 0.9897 | likely_pathogenic | 0.9893 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.791945487 | None | None | N |
| P/M | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/N | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.742 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.786204611 | None | None | N |
| P/R | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.807463558 | None | None | N |
| P/S | 0.9934 | likely_pathogenic | 0.9923 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.638741746 | None | None | N |
| P/T | 0.9876 | likely_pathogenic | 0.9856 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.750311602 | None | None | N |
| P/V | 0.9913 | likely_pathogenic | 0.9907 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.61 | Destabilizing | 1.0 | D | 0.894 | 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.