Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32168 | 96727;96728;96729 | chr2:178543471;178543470;178543469 | chr2:179408198;179408197;179408196 |
| N2AB | 30527 | 91804;91805;91806 | chr2:178543471;178543470;178543469 | chr2:179408198;179408197;179408196 |
| N2A | 29600 | 89023;89024;89025 | chr2:178543471;178543470;178543469 | chr2:179408198;179408197;179408196 |
| N2B | 23103 | 69532;69533;69534 | chr2:178543471;178543470;178543469 | chr2:179408198;179408197;179408196 |
| Novex-1 | 23228 | 69907;69908;69909 | chr2:178543471;178543470;178543469 | chr2:179408198;179408197;179408196 |
| Novex-2 | 23295 | 70108;70109;70110 | chr2:178543471;178543470;178543469 | chr2:179408198;179408197;179408196 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs745694652  |
-0.057 | 1.0 | N | 0.757 | 0.426 | 0.48095081912 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.66223E-04 |
| G/E | rs745694652 |
-0.057 | 1.0 | N | 0.757 | 0.426 | 0.48095081912 | gnomAD-4.0.0 | 4.10544E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49737E-06 | 0 | 1.65678E-05 |
| G/R | rs1381527063 |
-0.058 | 1.0 | N | 0.774 | 0.433 | 0.616854986462 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/R | rs1381527063 |
-0.058 | 1.0 | N | 0.774 | 0.433 | 0.616854986462 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1381527063 |
-0.058 | 1.0 | N | 0.774 | 0.433 | 0.616854986462 | gnomAD-4.0.0 | 1.31442E-05 | None | None | None | None | N | None | 2.41359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47011E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2161 | likely_benign | 0.2028 | benign | -0.306 | Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.512505273 | None | None | N |
| G/C | 0.3209 | likely_benign | 0.2994 | benign | -0.945 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/D | 0.1997 | likely_benign | 0.2141 | benign | -0.362 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/E | 0.3168 | likely_benign | 0.3211 | benign | -0.508 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.514787923 | None | None | N |
| G/F | 0.7848 | likely_pathogenic | 0.7468 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/H | 0.4075 | ambiguous | 0.4106 | ambiguous | -0.508 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/I | 0.6871 | likely_pathogenic | 0.6444 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/K | 0.5794 | likely_pathogenic | 0.5949 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/L | 0.6553 | likely_pathogenic | 0.6125 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/M | 0.6623 | likely_pathogenic | 0.6402 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/N | 0.1964 | likely_benign | 0.207 | benign | -0.456 | Destabilizing | 0.98 | D | 0.519 | neutral | None | None | None | None | N |
| G/P | 0.891 | likely_pathogenic | 0.8957 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/Q | 0.391 | ambiguous | 0.3934 | ambiguous | -0.695 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/R | 0.4885 | ambiguous | 0.48 | ambiguous | -0.349 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.521868611 | None | None | N |
| G/S | 0.1138 | likely_benign | 0.1099 | benign | -0.652 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/T | 0.2666 | likely_benign | 0.2553 | benign | -0.714 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/V | 0.517 | ambiguous | 0.474 | ambiguous | -0.33 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.501998342 | None | None | N |
| G/W | 0.6512 | likely_pathogenic | 0.6174 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5935 | likely_pathogenic | 0.5736 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.797 | 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.