Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1632 | 5119;5120;5121 | chr2:178776970;178776969;178776968 | chr2:179641697;179641696;179641695 |
| N2AB | 1632 | 5119;5120;5121 | chr2:178776970;178776969;178776968 | chr2:179641697;179641696;179641695 |
| N2A | 1632 | 5119;5120;5121 | chr2:178776970;178776969;178776968 | chr2:179641697;179641696;179641695 |
| N2B | 1586 | 4981;4982;4983 | chr2:178776970;178776969;178776968 | chr2:179641697;179641696;179641695 |
| Novex-1 | 1586 | 4981;4982;4983 | chr2:178776970;178776969;178776968 | chr2:179641697;179641696;179641695 |
| Novex-2 | 1586 | 4981;4982;4983 | chr2:178776970;178776969;178776968 | chr2:179641697;179641696;179641695 |
| Novex-3 | 1632 | 5119;5120;5121 | chr2:178776970;178776969;178776968 | chr2:179641697;179641696;179641695 |
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 | rs1250136125  |
None | 1.0 | D | 0.755 | 0.719 | 0.672020861447 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1250136125 |
None | 1.0 | D | 0.755 | 0.719 | 0.672020861447 | gnomAD-4.0.0 | 2.56162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78377E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.936 | likely_pathogenic | 0.9182 | pathogenic | -1.611 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/D | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.884 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.799195087 | None | None | N |
| A/E | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.712 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/F | 0.9962 | likely_pathogenic | 0.9952 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/G | 0.6815 | likely_pathogenic | 0.6058 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.715686219 | None | None | N |
| A/H | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/I | 0.9666 | likely_pathogenic | 0.96 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/L | 0.9419 | likely_pathogenic | 0.9321 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/M | 0.9786 | likely_pathogenic | 0.9723 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/N | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/P | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.799813542 | None | None | N |
| A/Q | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/R | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/S | 0.6 | likely_pathogenic | 0.5281 | ambiguous | -2.146 | Highly Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.799913215 | None | None | N |
| A/T | 0.9032 | likely_pathogenic | 0.8648 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.80065053 | None | None | N |
| A/V | 0.8443 | likely_pathogenic | 0.8171 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.585348426 | None | None | N |
| A/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/Y | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.825 | 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.