Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9062 | 27409;27410;27411 | chr2:178712841;178712840;178712839 | chr2:179577568;179577567;179577566 |
| N2AB | 8745 | 26458;26459;26460 | chr2:178712841;178712840;178712839 | chr2:179577568;179577567;179577566 |
| N2A | 7818 | 23677;23678;23679 | chr2:178712841;178712840;178712839 | chr2:179577568;179577567;179577566 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | rs2076863963  |
None | 0.956 | N | 0.429 | 0.248 | 0.168933306366 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs2076863963 |
None | 0.956 | N | 0.429 | 0.248 | 0.168933306366 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | N | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1287177900 |
-0.046 | 0.997 | N | 0.521 | 0.271 | 0.464270400615 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1287177900 |
-0.046 | 0.997 | N | 0.521 | 0.271 | 0.464270400615 | gnomAD-4.0.0 | 6.84233E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52067E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 0.63 | N | 0.256 | 0.109 | 0.107399877778 | gnomAD-4.0.0 | 6.84233E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9947E-07 | 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 | 0.2004 | likely_benign | 0.1746 | benign | -0.23 | Destabilizing | 0.9 | D | 0.429 | neutral | N | 0.465139543 | None | None | N |
| G/C | 0.4007 | ambiguous | 0.3876 | ambiguous | -0.761 | Destabilizing | 1.0 | D | 0.64 | neutral | N | 0.492664774 | None | None | N |
| G/D | 0.2103 | likely_benign | 0.2021 | benign | -0.621 | Destabilizing | 0.956 | D | 0.429 | neutral | N | 0.488358178 | None | None | N |
| G/E | 0.2877 | likely_benign | 0.2917 | benign | -0.789 | Destabilizing | 0.995 | D | 0.482 | neutral | None | None | None | None | N |
| G/F | 0.7045 | likely_pathogenic | 0.695 | pathogenic | -1.012 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| G/H | 0.4543 | ambiguous | 0.4517 | ambiguous | -0.532 | Destabilizing | 0.999 | D | 0.522 | neutral | None | None | None | None | N |
| G/I | 0.5493 | ambiguous | 0.5296 | ambiguous | -0.399 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| G/K | 0.4303 | ambiguous | 0.4558 | ambiguous | -0.813 | Destabilizing | 0.995 | D | 0.483 | neutral | None | None | None | None | N |
| G/L | 0.5473 | ambiguous | 0.512 | ambiguous | -0.399 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| G/M | 0.6067 | likely_pathogenic | 0.5684 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| G/N | 0.3125 | likely_benign | 0.2769 | benign | -0.373 | Destabilizing | 0.643 | D | 0.251 | neutral | None | None | None | None | N |
| G/P | 0.9205 | likely_pathogenic | 0.9323 | pathogenic | -0.311 | Destabilizing | 0.998 | D | 0.517 | neutral | None | None | None | None | N |
| G/Q | 0.3922 | ambiguous | 0.399 | ambiguous | -0.664 | Destabilizing | 0.998 | D | 0.515 | neutral | None | None | None | None | N |
| G/R | 0.3039 | likely_benign | 0.3259 | benign | -0.374 | Destabilizing | 0.997 | D | 0.521 | neutral | N | 0.476509075 | None | None | N |
| G/S | 0.1015 | likely_benign | 0.0897 | benign | -0.483 | Destabilizing | 0.63 | D | 0.256 | neutral | N | 0.476927676 | None | None | N |
| G/T | 0.1935 | likely_benign | 0.166 | benign | -0.587 | Destabilizing | 0.967 | D | 0.457 | neutral | None | None | None | None | N |
| G/V | 0.3575 | ambiguous | 0.335 | benign | -0.311 | Destabilizing | 0.997 | D | 0.623 | neutral | N | 0.487638344 | None | None | N |
| G/W | 0.5165 | ambiguous | 0.5274 | ambiguous | -1.178 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| G/Y | 0.5963 | likely_pathogenic | 0.5831 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.623 | neutral | 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.