Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35342 | 106249;106250;106251 | chr2:178530591;178530590;178530589 | chr2:179395318;179395317;179395316 |
| N2AB | 33701 | 101326;101327;101328 | chr2:178530591;178530590;178530589 | chr2:179395318;179395317;179395316 |
| N2A | 32774 | 98545;98546;98547 | chr2:178530591;178530590;178530589 | chr2:179395318;179395317;179395316 |
| N2B | 26277 | 79054;79055;79056 | chr2:178530591;178530590;178530589 | chr2:179395318;179395317;179395316 |
| Novex-1 | 26402 | 79429;79430;79431 | chr2:178530591;178530590;178530589 | chr2:179395318;179395317;179395316 |
| Novex-2 | 26469 | 79630;79631;79632 | chr2:178530591;178530590;178530589 | chr2:179395318;179395317;179395316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1060500560  |
-1.161 | 0.008 | N | 0.603 | 0.236 | 0.137902524267 | 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 |
| Y/C | rs1060500560 |
-1.161 | 0.008 | N | 0.603 | 0.236 | 0.137902524267 | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 2.17087E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs1060500560 |
-1.161 | 0.008 | N | 0.603 | 0.236 | 0.137902524267 | gnomAD-4.0.0 | 8.05512E-06 | None | None | None | None | N | None | 1.60141E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47544E-07 | 0 | 0 |
| Y/S | rs1060500560 |
-2.975 | 0.722 | N | 0.769 | 0.22 | 0.239901079897 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/S | rs1060500560 |
-2.975 | 0.722 | N | 0.769 | 0.22 | 0.239901079897 | gnomAD-4.0.0 | 1.36829E-06 | None | None | None | None | N | None | 0 | 2.23594E-05 | None | 0 | 0 | None | 0 | 0 | 8.99405E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.8369 | likely_pathogenic | 0.7886 | pathogenic | -2.615 | Highly Destabilizing | 0.415 | N | 0.738 | prob.delet. | None | None | None | None | N |
| Y/C | 0.2472 | likely_benign | 0.2145 | benign | -1.579 | Destabilizing | 0.008 | N | 0.603 | neutral | N | 0.449097995 | None | None | N |
| Y/D | 0.9777 | likely_pathogenic | 0.9525 | pathogenic | -1.518 | Destabilizing | 0.983 | D | 0.817 | deleterious | N | 0.495235717 | None | None | N |
| Y/E | 0.9882 | likely_pathogenic | 0.9769 | pathogenic | -1.385 | Destabilizing | 0.987 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/F | 0.1374 | likely_benign | 0.1392 | benign | -1.177 | Destabilizing | 0.84 | D | 0.673 | neutral | N | 0.469067836 | None | None | N |
| Y/G | 0.8818 | likely_pathogenic | 0.8331 | pathogenic | -2.993 | Highly Destabilizing | 0.923 | D | 0.797 | deleterious | None | None | None | None | N |
| Y/H | 0.7527 | likely_pathogenic | 0.6604 | pathogenic | -1.499 | Destabilizing | 0.983 | D | 0.751 | deleterious | N | 0.47077999 | None | None | N |
| Y/I | 0.8107 | likely_pathogenic | 0.764 | pathogenic | -1.428 | Destabilizing | 0.775 | D | 0.785 | deleterious | None | None | None | None | N |
| Y/K | 0.9813 | likely_pathogenic | 0.9624 | pathogenic | -1.676 | Destabilizing | 0.961 | D | 0.779 | deleterious | None | None | None | None | N |
| Y/L | 0.7106 | likely_pathogenic | 0.6799 | pathogenic | -1.428 | Destabilizing | 0.633 | D | 0.743 | deleterious | None | None | None | None | N |
| Y/M | 0.8648 | likely_pathogenic | 0.8386 | pathogenic | -1.164 | Destabilizing | 0.996 | D | 0.756 | deleterious | None | None | None | None | N |
| Y/N | 0.8714 | likely_pathogenic | 0.8043 | pathogenic | -2.131 | Highly Destabilizing | 0.983 | D | 0.793 | deleterious | N | 0.448725176 | None | None | N |
| Y/P | 0.994 | likely_pathogenic | 0.9916 | pathogenic | -1.825 | Destabilizing | 0.987 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/Q | 0.9657 | likely_pathogenic | 0.9378 | pathogenic | -1.961 | Destabilizing | 0.987 | D | 0.79 | deleterious | None | None | None | None | N |
| Y/R | 0.9359 | likely_pathogenic | 0.8886 | pathogenic | -1.322 | Destabilizing | 0.987 | D | 0.793 | deleterious | None | None | None | None | N |
| Y/S | 0.7464 | likely_pathogenic | 0.6539 | pathogenic | -2.703 | Highly Destabilizing | 0.722 | D | 0.769 | deleterious | N | 0.451999441 | None | None | N |
| Y/T | 0.8996 | likely_pathogenic | 0.8529 | pathogenic | -2.454 | Highly Destabilizing | 0.775 | D | 0.781 | deleterious | None | None | None | None | N |
| Y/V | 0.6558 | likely_pathogenic | 0.6069 | pathogenic | -1.825 | Destabilizing | 0.633 | D | 0.762 | deleterious | None | None | None | None | N |
| Y/W | 0.5806 | likely_pathogenic | 0.5349 | ambiguous | -0.7 | Destabilizing | 0.996 | D | 0.74 | 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.