Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27217 | 81874;81875;81876 | chr2:178564483;178564482;178564481 | chr2:179429210;179429209;179429208 |
| N2AB | 25576 | 76951;76952;76953 | chr2:178564483;178564482;178564481 | chr2:179429210;179429209;179429208 |
| N2A | 24649 | 74170;74171;74172 | chr2:178564483;178564482;178564481 | chr2:179429210;179429209;179429208 |
| N2B | 18152 | 54679;54680;54681 | chr2:178564483;178564482;178564481 | chr2:179429210;179429209;179429208 |
| Novex-1 | 18277 | 55054;55055;55056 | chr2:178564483;178564482;178564481 | chr2:179429210;179429209;179429208 |
| Novex-2 | 18344 | 55255;55256;55257 | chr2:178564483;178564482;178564481 | chr2:179429210;179429209;179429208 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1704929836  |
None | 1.0 | D | 0.709 | 0.486 | 0.661726622693 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs1704929836 |
None | 1.0 | D | 0.709 | 0.486 | 0.661726622693 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | N | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.997 | likely_pathogenic | 0.9965 | pathogenic | -2.769 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/C | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.555773993 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| W/F | 0.7836 | likely_pathogenic | 0.7503 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| W/G | 0.9895 | likely_pathogenic | 0.9885 | pathogenic | -2.961 | Highly Destabilizing | 1.0 | D | 0.657 | neutral | D | 0.542985656 | None | None | N |
| W/H | 0.9961 | likely_pathogenic | 0.9962 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| W/I | 0.9955 | likely_pathogenic | 0.9942 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/L | 0.986 | likely_pathogenic | 0.9813 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.657 | neutral | D | 0.530615393 | None | None | N |
| W/M | 0.9966 | likely_pathogenic | 0.9955 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| W/N | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/P | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.789 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.543492635 | None | None | N |
| W/S | 0.995 | likely_pathogenic | 0.9944 | pathogenic | -2.18 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.519766066 | None | None | N |
| W/T | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/V | 0.9955 | likely_pathogenic | 0.9942 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9276 | likely_pathogenic | 0.9205 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.594 | neutral | 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.