Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15884 | 47875;47876;47877 | chr2:178617435;178617434;178617433 | chr2:179482162;179482161;179482160 |
| N2AB | 14243 | 42952;42953;42954 | chr2:178617435;178617434;178617433 | chr2:179482162;179482161;179482160 |
| N2A | 13316 | 40171;40172;40173 | chr2:178617435;178617434;178617433 | chr2:179482162;179482161;179482160 |
| N2B | 6819 | 20680;20681;20682 | chr2:178617435;178617434;178617433 | chr2:179482162;179482161;179482160 |
| Novex-1 | 6944 | 21055;21056;21057 | chr2:178617435;178617434;178617433 | chr2:179482162;179482161;179482160 |
| Novex-2 | 7011 | 21256;21257;21258 | chr2:178617435;178617434;178617433 | chr2:179482162;179482161;179482160 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs1167024702  |
-0.051 | 1.0 | N | 0.707 | 0.572 | 0.587751488883 | gnomAD-2.1.1 | 8.74E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.47E-05 | 0 | 0 |
| L/P | rs1167024702 |
-0.051 | 1.0 | N | 0.707 | 0.572 | 0.587751488883 | gnomAD-4.0.0 | 3.27201E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.78845E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2022 | likely_benign | 0.1972 | benign | -0.525 | Destabilizing | 0.999 | D | 0.66 | neutral | None | None | None | None | I |
| L/C | 0.5763 | likely_pathogenic | 0.5584 | ambiguous | -0.645 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| L/D | 0.5962 | likely_pathogenic | 0.5867 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| L/E | 0.238 | likely_benign | 0.2118 | benign | -0.192 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| L/F | 0.1911 | likely_benign | 0.2005 | benign | -0.565 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| L/G | 0.4529 | ambiguous | 0.4391 | ambiguous | -0.673 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| L/H | 0.3085 | likely_benign | 0.3026 | benign | 0.013 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| L/I | 0.0977 | likely_benign | 0.1062 | benign | -0.261 | Destabilizing | 0.999 | D | 0.555 | neutral | None | None | None | None | I |
| L/K | 0.2275 | likely_benign | 0.1873 | benign | -0.303 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| L/M | 0.1284 | likely_benign | 0.1357 | benign | -0.402 | Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.468718115 | None | None | I |
| L/N | 0.3549 | ambiguous | 0.3528 | ambiguous | -0.119 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| L/P | 0.3495 | ambiguous | 0.2783 | benign | -0.317 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.477795587 | None | None | I |
| L/Q | 0.139 | likely_benign | 0.1296 | benign | -0.326 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.480480928 | None | None | I |
| L/R | 0.2033 | likely_benign | 0.183 | benign | 0.217 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.475506147 | None | None | I |
| L/S | 0.2404 | likely_benign | 0.2441 | benign | -0.559 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| L/T | 0.2151 | likely_benign | 0.2133 | benign | -0.543 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| L/V | 0.0986 | likely_benign | 0.1013 | benign | -0.317 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.469802981 | None | None | I |
| L/W | 0.3267 | likely_benign | 0.3403 | ambiguous | -0.585 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| L/Y | 0.3975 | ambiguous | 0.4015 | ambiguous | -0.335 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
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.