Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33124 | 99595;99596;99597 | chr2:178537837;178537836;178537835 | chr2:179402564;179402563;179402562 |
| N2AB | 31483 | 94672;94673;94674 | chr2:178537837;178537836;178537835 | chr2:179402564;179402563;179402562 |
| N2A | 30556 | 91891;91892;91893 | chr2:178537837;178537836;178537835 | chr2:179402564;179402563;179402562 |
| N2B | 24059 | 72400;72401;72402 | chr2:178537837;178537836;178537835 | chr2:179402564;179402563;179402562 |
| Novex-1 | 24184 | 72775;72776;72777 | chr2:178537837;178537836;178537835 | chr2:179402564;179402563;179402562 |
| Novex-2 | 24251 | 72976;72977;72978 | chr2:178537837;178537836;178537835 | chr2:179402564;179402563;179402562 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1460988809  |
-3.047 | 1.0 | D | 0.777 | 0.601 | 0.785110947316 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1460988809 |
-3.047 | 1.0 | D | 0.777 | 0.601 | 0.785110947316 | gnomAD-4.0.0 | 2.73708E-06 | None | None | None | None | N | None | 5.978E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79901E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8863 | likely_pathogenic | 0.9288 | pathogenic | -2.903 | Highly Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| I/C | 0.9721 | likely_pathogenic | 0.9828 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| I/D | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.446 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| I/E | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -3.264 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| I/F | 0.5373 | ambiguous | 0.5398 | ambiguous | -1.737 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.485809889 | None | None | N |
| I/G | 0.9919 | likely_pathogenic | 0.9943 | pathogenic | -3.382 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| I/H | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -2.77 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| I/K | 0.9961 | likely_pathogenic | 0.9958 | pathogenic | -2.366 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| I/L | 0.2827 | likely_benign | 0.385 | ambiguous | -1.508 | Destabilizing | 0.973 | D | 0.394 | neutral | D | 0.53342769 | None | None | N |
| I/M | 0.2453 | likely_benign | 0.2923 | benign | -1.321 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.517148942 | None | None | N |
| I/N | 0.9881 | likely_pathogenic | 0.9882 | pathogenic | -2.609 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.529012226 | None | None | N |
| I/P | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| I/Q | 0.995 | likely_pathogenic | 0.9955 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| I/R | 0.9927 | likely_pathogenic | 0.9921 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| I/S | 0.9698 | likely_pathogenic | 0.9758 | pathogenic | -3.204 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.519018385 | None | None | N |
| I/T | 0.8805 | likely_pathogenic | 0.9151 | pathogenic | -2.909 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.528483231 | None | None | N |
| I/V | 0.1234 | likely_benign | 0.1601 | benign | -1.958 | Destabilizing | 0.98 | D | 0.323 | neutral | N | 0.404969656 | None | None | N |
| I/W | 0.9918 | likely_pathogenic | 0.9912 | pathogenic | -2.18 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| I/Y | 0.9687 | likely_pathogenic | 0.9632 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.845 | 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.