Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23216 | 69871;69872;69873 | chr2:178576598;178576597;178576596 | chr2:179441325;179441324;179441323 |
| N2AB | 21575 | 64948;64949;64950 | chr2:178576598;178576597;178576596 | chr2:179441325;179441324;179441323 |
| N2A | 20648 | 62167;62168;62169 | chr2:178576598;178576597;178576596 | chr2:179441325;179441324;179441323 |
| N2B | 14151 | 42676;42677;42678 | chr2:178576598;178576597;178576596 | chr2:179441325;179441324;179441323 |
| Novex-1 | 14276 | 43051;43052;43053 | chr2:178576598;178576597;178576596 | chr2:179441325;179441324;179441323 |
| Novex-2 | 14343 | 43252;43253;43254 | chr2:178576598;178576597;178576596 | chr2:179441325;179441324;179441323 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1271698447  |
-1.975 | 1.0 | D | 0.791 | 0.625 | 0.550589291799 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/T | rs1271698447 |
-1.975 | 1.0 | D | 0.791 | 0.625 | 0.550589291799 | gnomAD-4.0.0 | 1.5917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85914E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9076 | likely_pathogenic | 0.9147 | pathogenic | -1.832 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/D | 0.9985 | likely_pathogenic | 0.9992 | pathogenic | -2.901 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/E | 0.9966 | likely_pathogenic | 0.9983 | pathogenic | -2.69 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.573294905 | None | None | N |
| A/F | 0.9948 | likely_pathogenic | 0.9967 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/G | 0.6015 | likely_pathogenic | 0.6212 | pathogenic | -2.131 | Highly Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.529982824 | None | None | N |
| A/H | 0.9982 | likely_pathogenic | 0.999 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/I | 0.9887 | likely_pathogenic | 0.9934 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/K | 0.9987 | likely_pathogenic | 0.9994 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/L | 0.9463 | likely_pathogenic | 0.96 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/M | 0.9791 | likely_pathogenic | 0.987 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/N | 0.9974 | likely_pathogenic | 0.9984 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/P | 0.9855 | likely_pathogenic | 0.9917 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.555444139 | None | None | N |
| A/Q | 0.9914 | likely_pathogenic | 0.995 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/R | 0.9902 | likely_pathogenic | 0.995 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/S | 0.5254 | ambiguous | 0.5816 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.513636087 | None | None | N |
| A/T | 0.9006 | likely_pathogenic | 0.9388 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.546615367 | None | None | N |
| A/V | 0.9198 | likely_pathogenic | 0.9517 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.544768943 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/Y | 0.9978 | likely_pathogenic | 0.9986 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.882 | 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.