Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10138 | 30637;30638;30639 | chr2:178702475;178702474;178702473 | chr2:179567202;179567201;179567200 |
| N2AB | 9821 | 29686;29687;29688 | chr2:178702475;178702474;178702473 | chr2:179567202;179567201;179567200 |
| N2A | 8894 | 26905;26906;26907 | chr2:178702475;178702474;178702473 | chr2:179567202;179567201;179567200 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.434 | None | 0.283 | 0.202 | 0.0920862733494 | gnomAD-4.0.0 | 2.05243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 0 | 1.15931E-05 | 1.6564E-05 |
| N/H | rs539637860  |
-0.833 | 1.0 | None | 0.663 | 0.385 | 0.143124449307 | gnomAD-2.1.1 | 4.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66889E-04 | None | 2.28758E-04 | None | 0 | 0 | 0 |
| N/H | rs539637860 |
-0.833 | 1.0 | None | 0.663 | 0.385 | 0.143124449307 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 3.8432E-04 | None | 0 | 0 | 0 | 8.28157E-04 | 0 |
| N/H | rs539637860 |
-0.833 | 1.0 | None | 0.663 | 0.385 | 0.143124449307 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| N/H | rs539637860 |
-0.833 | 1.0 | None | 0.663 | 0.385 | 0.143124449307 | gnomAD-4.0.0 | 2.04471E-05 | None | None | None | None | N | None | 0 | 1.66644E-05 | None | 0 | 1.11383E-04 | None | 0 | 0 | 0 | 2.85451E-04 | 1.60051E-05 |
| N/S | None | None | 0.996 | None | 0.4 | 0.399 | 0.15556083564 | gnomAD-4.0.0 | 1.5909E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8632 | likely_pathogenic | 0.9047 | pathogenic | -0.543 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| N/C | 0.8741 | likely_pathogenic | 0.9291 | pathogenic | 0.346 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/D | 0.4433 | ambiguous | 0.5084 | ambiguous | -0.534 | Destabilizing | 0.434 | N | 0.283 | neutral | None | None | None | None | N |
| N/E | 0.9168 | likely_pathogenic | 0.9322 | pathogenic | -0.502 | Destabilizing | 0.994 | D | 0.435 | neutral | None | None | None | None | N |
| N/F | 0.9677 | likely_pathogenic | 0.9801 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| N/G | 0.6877 | likely_pathogenic | 0.7882 | pathogenic | -0.825 | Destabilizing | 0.998 | D | 0.398 | neutral | None | None | None | None | N |
| N/H | 0.3808 | ambiguous | 0.4498 | ambiguous | -0.813 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| N/I | 0.9759 | likely_pathogenic | 0.9862 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/K | 0.9331 | likely_pathogenic | 0.9494 | pathogenic | -0.224 | Destabilizing | 0.998 | D | 0.534 | neutral | None | None | None | None | N |
| N/L | 0.9114 | likely_pathogenic | 0.9393 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| N/M | 0.9547 | likely_pathogenic | 0.9712 | pathogenic | 0.742 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| N/P | 0.9911 | likely_pathogenic | 0.9934 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| N/Q | 0.8693 | likely_pathogenic | 0.8927 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| N/R | 0.8874 | likely_pathogenic | 0.8998 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| N/S | 0.2759 | likely_benign | 0.3327 | benign | -0.581 | Destabilizing | 0.996 | D | 0.4 | neutral | None | None | None | None | N |
| N/T | 0.8162 | likely_pathogenic | 0.8713 | pathogenic | -0.388 | Destabilizing | 0.998 | D | 0.497 | neutral | None | None | None | None | N |
| N/V | 0.9674 | likely_pathogenic | 0.9796 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/W | 0.9875 | likely_pathogenic | 0.992 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/Y | 0.707 | likely_pathogenic | 0.7972 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.755 | 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.