Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31497 | 94714;94715;94716 | chr2:178547036;178547035;178547034 | chr2:179411763;179411762;179411761 |
| N2AB | 29856 | 89791;89792;89793 | chr2:178547036;178547035;178547034 | chr2:179411763;179411762;179411761 |
| N2A | 28929 | 87010;87011;87012 | chr2:178547036;178547035;178547034 | chr2:179411763;179411762;179411761 |
| N2B | 22432 | 67519;67520;67521 | chr2:178547036;178547035;178547034 | chr2:179411763;179411762;179411761 |
| Novex-1 | 22557 | 67894;67895;67896 | chr2:178547036;178547035;178547034 | chr2:179411763;179411762;179411761 |
| Novex-2 | 22624 | 68095;68096;68097 | chr2:178547036;178547035;178547034 | chr2:179411763;179411762;179411761 |
| 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/T | rs1371205000  |
-1.482 | 0.998 | N | 0.758 | 0.245 | 0.29527378943 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs1371205000 |
-1.482 | 0.998 | N | 0.758 | 0.245 | 0.29527378943 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1371205000 |
-1.482 | 0.998 | N | 0.758 | 0.245 | 0.29527378943 | gnomAD-4.0.0 | 2.56464E-06 | None | None | None | None | N | None | 0 | 1.69549E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34081E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6957 | likely_pathogenic | 0.645 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/D | 0.8661 | likely_pathogenic | 0.879 | pathogenic | -1.608 | Destabilizing | 0.998 | D | 0.884 | deleterious | N | 0.466009506 | None | None | N |
| A/E | 0.7709 | likely_pathogenic | 0.7885 | pathogenic | -1.631 | Destabilizing | 0.998 | D | 0.8 | deleterious | None | None | None | None | N |
| A/F | 0.7588 | likely_pathogenic | 0.7448 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| A/G | 0.303 | likely_benign | 0.2776 | benign | -1.396 | Destabilizing | 0.991 | D | 0.634 | neutral | N | 0.482138751 | None | None | N |
| A/H | 0.8977 | likely_pathogenic | 0.8949 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| A/I | 0.4735 | ambiguous | 0.4506 | ambiguous | -0.564 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| A/K | 0.9515 | likely_pathogenic | 0.9529 | pathogenic | -1.316 | Destabilizing | 0.998 | D | 0.831 | deleterious | None | None | None | None | N |
| A/L | 0.4613 | ambiguous | 0.4323 | ambiguous | -0.564 | Destabilizing | 0.993 | D | 0.764 | deleterious | None | None | None | None | N |
| A/M | 0.4868 | ambiguous | 0.4668 | ambiguous | -0.448 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/N | 0.6262 | likely_pathogenic | 0.6127 | pathogenic | -1.062 | Destabilizing | 0.999 | D | 0.891 | deleterious | None | None | None | None | N |
| A/P | 0.1456 | likely_benign | 0.1474 | benign | -0.715 | Destabilizing | 0.289 | N | 0.487 | neutral | N | 0.410519044 | None | None | N |
| A/Q | 0.7847 | likely_pathogenic | 0.7709 | pathogenic | -1.253 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| A/R | 0.9357 | likely_pathogenic | 0.9351 | pathogenic | -0.925 | Destabilizing | 0.999 | D | 0.864 | deleterious | None | None | None | None | N |
| A/S | 0.166 | likely_benign | 0.1604 | benign | -1.402 | Destabilizing | 0.991 | D | 0.687 | prob.delet. | N | 0.485864951 | None | None | N |
| A/T | 0.2316 | likely_benign | 0.2239 | benign | -1.341 | Destabilizing | 0.998 | D | 0.758 | deleterious | N | 0.47716811 | None | None | N |
| A/V | 0.2608 | likely_benign | 0.2444 | benign | -0.715 | Destabilizing | 0.991 | D | 0.627 | neutral | N | 0.436974926 | None | None | N |
| A/W | 0.9631 | likely_pathogenic | 0.9597 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| A/Y | 0.8613 | likely_pathogenic | 0.8449 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.921 | 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.