Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16856 | 50791;50792;50793 | chr2:178611663;178611662;178611661 | chr2:179476390;179476389;179476388 |
| N2AB | 15215 | 45868;45869;45870 | chr2:178611663;178611662;178611661 | chr2:179476390;179476389;179476388 |
| N2A | 14288 | 43087;43088;43089 | chr2:178611663;178611662;178611661 | chr2:179476390;179476389;179476388 |
| N2B | 7791 | 23596;23597;23598 | chr2:178611663;178611662;178611661 | chr2:179476390;179476389;179476388 |
| Novex-1 | 7916 | 23971;23972;23973 | chr2:178611663;178611662;178611661 | chr2:179476390;179476389;179476388 |
| Novex-2 | 7983 | 24172;24173;24174 | chr2:178611663;178611662;178611661 | chr2:179476390;179476389;179476388 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs2056345177  |
None | 1.0 | D | 0.885 | 0.526 | 0.676519919311 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9273 | likely_pathogenic | 0.9197 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.667064187 | None | None | N |
| P/C | 0.9947 | likely_pathogenic | 0.9948 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.308 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -3.032 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/G | 0.9961 | likely_pathogenic | 0.9964 | pathogenic | -3.054 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/H | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.657 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.795931102 | None | None | N |
| P/I | 0.9862 | likely_pathogenic | 0.989 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/L | 0.9684 | likely_pathogenic | 0.9664 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.792895632 | None | None | N |
| P/M | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.4 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/Q | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/R | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.795292684 | None | None | N |
| P/S | 0.9935 | likely_pathogenic | 0.9918 | pathogenic | -2.912 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.76055605 | None | None | N |
| P/T | 0.9893 | likely_pathogenic | 0.9884 | pathogenic | -2.499 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.759429734 | None | None | N |
| P/V | 0.9591 | likely_pathogenic | 0.9652 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.922 | 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.