Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29112 | 87559;87560;87561 | chr2:178558020;178558019;178558018 | chr2:179422747;179422746;179422745 |
| N2AB | 27471 | 82636;82637;82638 | chr2:178558020;178558019;178558018 | chr2:179422747;179422746;179422745 |
| N2A | 26544 | 79855;79856;79857 | chr2:178558020;178558019;178558018 | chr2:179422747;179422746;179422745 |
| N2B | 20047 | 60364;60365;60366 | chr2:178558020;178558019;178558018 | chr2:179422747;179422746;179422745 |
| Novex-1 | 20172 | 60739;60740;60741 | chr2:178558020;178558019;178558018 | chr2:179422747;179422746;179422745 |
| Novex-2 | 20239 | 60940;60941;60942 | chr2:178558020;178558019;178558018 | chr2:179422747;179422746;179422745 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs895853838  |
-1.32 | 0.014 | N | 0.263 | 0.043 | 0.184867976434 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs895853838 |
-1.32 | 0.014 | N | 0.263 | 0.043 | 0.184867976434 | gnomAD-4.0.0 | 6.84189E-07 | None | None | None | None | N | None | 0 | 2.23594E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs895853838 |
-1.214 | 0.121 | N | 0.321 | 0.104 | 0.259761712551 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs895853838 |
-1.214 | 0.121 | N | 0.321 | 0.104 | 0.259761712551 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs895853838 |
-1.214 | 0.121 | N | 0.321 | 0.104 | 0.259761712551 | gnomAD-4.0.0 | 1.05344E-05 | None | None | None | None | N | None | 0 | 1.66667E-05 | None | 0 | 2.22797E-05 | None | 0 | 0 | 1.01707E-05 | 2.19573E-05 | 1.60102E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4777 | ambiguous | 0.424 | ambiguous | -0.899 | Destabilizing | 0.985 | D | 0.619 | neutral | None | None | None | None | N |
| A/D | 0.6193 | likely_pathogenic | 0.543 | ambiguous | -0.51 | Destabilizing | 0.864 | D | 0.673 | neutral | N | 0.509699295 | None | None | N |
| A/E | 0.478 | ambiguous | 0.3996 | ambiguous | -0.593 | Destabilizing | 0.809 | D | 0.665 | neutral | None | None | None | None | N |
| A/F | 0.5072 | ambiguous | 0.4192 | ambiguous | -1.005 | Destabilizing | 0.945 | D | 0.765 | deleterious | None | None | None | None | N |
| A/G | 0.1541 | likely_benign | 0.1474 | benign | -0.9 | Destabilizing | 0.477 | N | 0.454 | neutral | N | 0.487329079 | None | None | N |
| A/H | 0.6727 | likely_pathogenic | 0.5873 | pathogenic | -0.95 | Destabilizing | 0.985 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/I | 0.378 | ambiguous | 0.2988 | benign | -0.392 | Destabilizing | 0.894 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/K | 0.6695 | likely_pathogenic | 0.5757 | pathogenic | -0.908 | Destabilizing | 0.809 | D | 0.661 | neutral | None | None | None | None | N |
| A/L | 0.3544 | ambiguous | 0.2677 | benign | -0.392 | Destabilizing | 0.707 | D | 0.589 | neutral | None | None | None | None | N |
| A/M | 0.2967 | likely_benign | 0.2388 | benign | -0.367 | Destabilizing | 0.995 | D | 0.705 | prob.neutral | None | None | None | None | N |
| A/N | 0.4644 | ambiguous | 0.3818 | ambiguous | -0.597 | Destabilizing | 0.809 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/P | 0.8991 | likely_pathogenic | 0.8678 | pathogenic | -0.46 | Destabilizing | 0.942 | D | 0.729 | prob.delet. | N | 0.510966742 | None | None | N |
| A/Q | 0.5071 | ambiguous | 0.4444 | ambiguous | -0.8 | Destabilizing | 0.894 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/R | 0.5553 | ambiguous | 0.4782 | ambiguous | -0.54 | Destabilizing | 0.894 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/S | 0.1002 | likely_benign | 0.0951 | benign | -0.975 | Destabilizing | 0.014 | N | 0.263 | neutral | N | 0.460868585 | None | None | N |
| A/T | 0.1004 | likely_benign | 0.0853 | benign | -0.959 | Destabilizing | 0.121 | N | 0.321 | neutral | N | 0.514396426 | None | None | N |
| A/V | 0.1909 | likely_benign | 0.1544 | benign | -0.46 | Destabilizing | 0.645 | D | 0.488 | neutral | D | 0.53134739 | None | None | N |
| A/W | 0.8729 | likely_pathogenic | 0.8174 | pathogenic | -1.223 | Destabilizing | 0.995 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/Y | 0.6437 | likely_pathogenic | 0.556 | ambiguous | -0.843 | Destabilizing | 0.945 | D | 0.757 | 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.