Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16156 | 48691;48692;48693 | chr2:178615479;178615478;178615477 | chr2:179480206;179480205;179480204 |
| N2AB | 14515 | 43768;43769;43770 | chr2:178615479;178615478;178615477 | chr2:179480206;179480205;179480204 |
| N2A | 13588 | 40987;40988;40989 | chr2:178615479;178615478;178615477 | chr2:179480206;179480205;179480204 |
| N2B | 7091 | 21496;21497;21498 | chr2:178615479;178615478;178615477 | chr2:179480206;179480205;179480204 |
| Novex-1 | 7216 | 21871;21872;21873 | chr2:178615479;178615478;178615477 | chr2:179480206;179480205;179480204 |
| Novex-2 | 7283 | 22072;22073;22074 | chr2:178615479;178615478;178615477 | chr2:179480206;179480205;179480204 |
| 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 | rs373195648  |
-2.264 | 0.911 | D | 0.421 | 0.467 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/S | rs373195648 |
-2.264 | 0.911 | D | 0.421 | 0.467 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs373195648 |
-2.264 | 0.911 | D | 0.421 | 0.467 | None | gnomAD-4.0.0 | 1.86202E-05 | None | None | None | None | N | None | 1.33811E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.46131E-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 | 0.9233 | likely_pathogenic | 0.9102 | pathogenic | -1.408 | Destabilizing | 0.983 | D | 0.658 | prob.neutral | D | 0.719844392 | None | None | N |
| P/C | 0.9919 | likely_pathogenic | 0.99 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -3.472 | Highly Destabilizing | 0.998 | D | 0.769 | deleterious | None | None | None | None | N |
| P/E | 0.9989 | likely_pathogenic | 0.9979 | pathogenic | -3.393 | Highly Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/G | 0.9945 | likely_pathogenic | 0.9919 | pathogenic | -1.729 | Destabilizing | 0.993 | D | 0.731 | deleterious | None | None | None | None | N |
| P/H | 0.9988 | likely_pathogenic | 0.998 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.778180256 | None | None | N |
| P/I | 0.9958 | likely_pathogenic | 0.9941 | pathogenic | -0.572 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| P/K | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -1.504 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
| P/L | 0.9816 | likely_pathogenic | 0.973 | pathogenic | -0.572 | Destabilizing | 0.999 | D | 0.775 | deleterious | D | 0.689625286 | None | None | N |
| P/M | 0.9971 | likely_pathogenic | 0.996 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.941 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| P/Q | 0.998 | likely_pathogenic | 0.9967 | pathogenic | -2.047 | Highly Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| P/R | 0.9966 | likely_pathogenic | 0.9941 | pathogenic | -1.103 | Destabilizing | 0.999 | D | 0.797 | deleterious | D | 0.776605312 | None | None | N |
| P/S | 0.9932 | likely_pathogenic | 0.9903 | pathogenic | -2.194 | Highly Destabilizing | 0.911 | D | 0.421 | neutral | D | 0.705220096 | None | None | N |
| P/T | 0.9902 | likely_pathogenic | 0.9867 | pathogenic | -2.015 | Highly Destabilizing | 0.995 | D | 0.787 | deleterious | D | 0.741221398 | None | None | N |
| P/V | 0.9866 | likely_pathogenic | 0.9824 | pathogenic | -0.825 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.809 | 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.