Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23700 | 71323;71324;71325 | chr2:178575034;178575033;178575032 | chr2:179439761;179439760;179439759 |
| N2AB | 22059 | 66400;66401;66402 | chr2:178575034;178575033;178575032 | chr2:179439761;179439760;179439759 |
| N2A | 21132 | 63619;63620;63621 | chr2:178575034;178575033;178575032 | chr2:179439761;179439760;179439759 |
| N2B | 14635 | 44128;44129;44130 | chr2:178575034;178575033;178575032 | chr2:179439761;179439760;179439759 |
| Novex-1 | 14760 | 44503;44504;44505 | chr2:178575034;178575033;178575032 | chr2:179439761;179439760;179439759 |
| Novex-2 | 14827 | 44704;44705;44706 | chr2:178575034;178575033;178575032 | chr2:179439761;179439760;179439759 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs1559444507  |
None | 1.0 | D | 0.827 | 0.725 | 0.621202144873 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| D/H | rs1559444507 |
None | 1.0 | D | 0.827 | 0.725 | 0.621202144873 | gnomAD-4.0.0 | 2.05308E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69874E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9886 | likely_pathogenic | 0.9864 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.826 | deleterious | D | 0.642015173 | None | None | N |
| D/C | 0.9953 | likely_pathogenic | 0.9948 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/E | 0.9645 | likely_pathogenic | 0.9627 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.588 | neutral | D | 0.615266235 | None | None | N |
| D/F | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | 0.555 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| D/G | 0.9899 | likely_pathogenic | 0.9885 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.642216977 | None | None | N |
| D/H | 0.9736 | likely_pathogenic | 0.9671 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.827 | deleterious | D | 0.550713744 | None | None | N |
| D/I | 0.9964 | likely_pathogenic | 0.9955 | pathogenic | 1.26 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/K | 0.9959 | likely_pathogenic | 0.9951 | pathogenic | 0.139 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/L | 0.9952 | likely_pathogenic | 0.9942 | pathogenic | 1.26 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/M | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | 1.743 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/N | 0.9233 | likely_pathogenic | 0.9156 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.608362017 | None | None | N |
| D/P | 0.9992 | likely_pathogenic | 0.999 | pathogenic | 0.869 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/Q | 0.9932 | likely_pathogenic | 0.9905 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| D/R | 0.9952 | likely_pathogenic | 0.9939 | pathogenic | 0.098 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/S | 0.9655 | likely_pathogenic | 0.9576 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/T | 0.993 | likely_pathogenic | 0.9917 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/V | 0.9901 | likely_pathogenic | 0.9879 | pathogenic | 0.869 | Stabilizing | 1.0 | D | 0.839 | deleterious | D | 0.626601224 | None | None | N |
| D/W | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | 0.631 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/Y | 0.9793 | likely_pathogenic | 0.9716 | pathogenic | 0.85 | Stabilizing | 1.0 | D | 0.852 | deleterious | D | 0.642418781 | 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.