Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22865 | 68818;68819;68820 | chr2:178577833;178577832;178577831 | chr2:179442560;179442559;179442558 |
| N2AB | 21224 | 63895;63896;63897 | chr2:178577833;178577832;178577831 | chr2:179442560;179442559;179442558 |
| N2A | 20297 | 61114;61115;61116 | chr2:178577833;178577832;178577831 | chr2:179442560;179442559;179442558 |
| N2B | 13800 | 41623;41624;41625 | chr2:178577833;178577832;178577831 | chr2:179442560;179442559;179442558 |
| Novex-1 | 13925 | 41998;41999;42000 | chr2:178577833;178577832;178577831 | chr2:179442560;179442559;179442558 |
| Novex-2 | 13992 | 42199;42200;42201 | chr2:178577833;178577832;178577831 | chr2:179442560;179442559;179442558 |
| 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/H | None | None | 1.0 | D | 0.87 | 0.651 | 0.710313493133 | gnomAD-4.0.0 | 1.60057E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87446E-06 | 0 | 0 |
| P/L | rs1327514162  |
-0.726 | 1.0 | D | 0.892 | 0.7 | 0.831665419939 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1327514162 |
-0.726 | 1.0 | D | 0.892 | 0.7 | 0.831665419939 | gnomAD-4.0.0 | 6.40229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7852E-05 | None | 0 | 0 | 8.62337E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8666 | likely_pathogenic | 0.8446 | pathogenic | -2.014 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.522578721 | None | None | N |
| P/C | 0.9886 | likely_pathogenic | 0.987 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/E | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/G | 0.9845 | likely_pathogenic | 0.9835 | pathogenic | -2.412 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/H | 0.9962 | likely_pathogenic | 0.9958 | pathogenic | -2.082 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.547457379 | None | None | N |
| P/I | 0.9952 | likely_pathogenic | 0.9945 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/K | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/L | 0.9755 | likely_pathogenic | 0.9734 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.557039257 | None | None | N |
| P/M | 0.9949 | likely_pathogenic | 0.9946 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/N | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/Q | 0.9933 | likely_pathogenic | 0.9927 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/R | 0.9934 | likely_pathogenic | 0.9933 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.530580891 | None | None | N |
| P/S | 0.9728 | likely_pathogenic | 0.97 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.490066741 | None | None | N |
| P/T | 0.9729 | likely_pathogenic | 0.9715 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.54669691 | None | None | N |
| P/V | 0.9825 | likely_pathogenic | 0.9805 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.889 | 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.