Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24313 | 73162;73163;73164 | chr2:178573195;178573194;178573193 | chr2:179437922;179437921;179437920 |
| N2AB | 22672 | 68239;68240;68241 | chr2:178573195;178573194;178573193 | chr2:179437922;179437921;179437920 |
| N2A | 21745 | 65458;65459;65460 | chr2:178573195;178573194;178573193 | chr2:179437922;179437921;179437920 |
| N2B | 15248 | 45967;45968;45969 | chr2:178573195;178573194;178573193 | chr2:179437922;179437921;179437920 |
| Novex-1 | 15373 | 46342;46343;46344 | chr2:178573195;178573194;178573193 | chr2:179437922;179437921;179437920 |
| Novex-2 | 15440 | 46543;46544;46545 | chr2:178573195;178573194;178573193 | chr2:179437922;179437921;179437920 |
| 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 | None | None | 0.986 | N | 0.739 | 0.244 | 0.504848970537 | gnomAD-4.0.0 | 6.1816E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.11946E-06 | 0 | 0 |
| P/T | rs1306961227  |
-0.847 | 0.986 | N | 0.781 | 0.345 | 0.347879110917 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs1306961227 |
-0.847 | 0.986 | N | 0.781 | 0.345 | 0.347879110917 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1306961227 |
-0.847 | 0.986 | N | 0.781 | 0.345 | 0.347879110917 | gnomAD-4.0.0 | 6.57575E-06 | None | None | None | None | N | None | 0 | 6.55136E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0633 | likely_benign | 0.0681 | benign | -0.974 | Destabilizing | 0.952 | D | 0.789 | deleterious | N | 0.470740783 | None | None | N |
| P/C | 0.2708 | likely_benign | 0.33 | benign | -0.53 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/D | 0.2312 | likely_benign | 0.2657 | benign | -0.206 | Destabilizing | 0.989 | D | 0.783 | deleterious | None | None | None | None | N |
| P/E | 0.173 | likely_benign | 0.1928 | benign | -0.134 | Destabilizing | 0.929 | D | 0.824 | deleterious | None | None | None | None | N |
| P/F | 0.2929 | likely_benign | 0.322 | benign | -0.524 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/G | 0.1945 | likely_benign | 0.2186 | benign | -1.328 | Destabilizing | 0.989 | D | 0.719 | prob.delet. | None | None | None | None | N |
| P/H | 0.1315 | likely_benign | 0.1393 | benign | -0.718 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| P/I | 0.1361 | likely_benign | 0.162 | benign | -0.091 | Destabilizing | 0.995 | D | 0.782 | deleterious | None | None | None | None | N |
| P/K | 0.182 | likely_benign | 0.2085 | benign | -0.502 | Destabilizing | 0.979 | D | 0.8 | deleterious | None | None | None | None | N |
| P/L | 0.08 | likely_benign | 0.0816 | benign | -0.091 | Destabilizing | 0.986 | D | 0.739 | deleterious | N | 0.50748823 | None | None | N |
| P/M | 0.171 | likely_benign | 0.1982 | benign | -0.187 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| P/N | 0.1632 | likely_benign | 0.1903 | benign | -0.494 | Destabilizing | 0.989 | D | 0.748 | deleterious | None | None | None | None | N |
| P/Q | 0.1064 | likely_benign | 0.1179 | benign | -0.49 | Destabilizing | 0.583 | D | 0.519 | neutral | N | 0.513376839 | None | None | N |
| P/R | 0.1371 | likely_benign | 0.1447 | benign | -0.244 | Destabilizing | 0.972 | D | 0.771 | deleterious | N | 0.508701738 | None | None | N |
| P/S | 0.0887 | likely_benign | 0.0932 | benign | -1.128 | Destabilizing | 0.986 | D | 0.794 | deleterious | N | 0.443823541 | None | None | N |
| P/T | 0.0782 | likely_benign | 0.0828 | benign | -0.924 | Destabilizing | 0.986 | D | 0.781 | deleterious | N | 0.511989973 | None | None | N |
| P/V | 0.0982 | likely_benign | 0.1136 | benign | -0.35 | Destabilizing | 0.995 | D | 0.751 | deleterious | None | None | None | None | N |
| P/W | 0.4618 | ambiguous | 0.4895 | ambiguous | -0.763 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| P/Y | 0.2618 | likely_benign | 0.2805 | benign | -0.383 | Destabilizing | 1.0 | D | 0.753 | 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.