Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31770 | 95533;95534;95535 | chr2:178545928;178545927;178545926 | chr2:179410655;179410654;179410653 |
| N2AB | 30129 | 90610;90611;90612 | chr2:178545928;178545927;178545926 | chr2:179410655;179410654;179410653 |
| N2A | 29202 | 87829;87830;87831 | chr2:178545928;178545927;178545926 | chr2:179410655;179410654;179410653 |
| N2B | 22705 | 68338;68339;68340 | chr2:178545928;178545927;178545926 | chr2:179410655;179410654;179410653 |
| Novex-1 | 22830 | 68713;68714;68715 | chr2:178545928;178545927;178545926 | chr2:179410655;179410654;179410653 |
| Novex-2 | 22897 | 68914;68915;68916 | chr2:178545928;178545927;178545926 | chr2:179410655;179410654;179410653 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs1250046145  |
-0.944 | 0.997 | D | 0.605 | 0.326 | 0.40032279838 | 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 |
| T/N | rs1250046145 |
-0.944 | 0.997 | D | 0.605 | 0.326 | 0.40032279838 | gnomAD-4.0.0 | 3.18231E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02407E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1219 | likely_benign | 0.1428 | benign | -0.492 | Destabilizing | 0.948 | D | 0.44 | neutral | N | 0.487337127 | None | None | N |
| T/C | 0.5075 | ambiguous | 0.5585 | ambiguous | -0.42 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/D | 0.4496 | ambiguous | 0.5427 | ambiguous | 0.247 | Stabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/E | 0.3934 | ambiguous | 0.474 | ambiguous | 0.254 | Stabilizing | 0.998 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/F | 0.4177 | ambiguous | 0.4773 | ambiguous | -0.57 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/G | 0.2021 | likely_benign | 0.2401 | benign | -0.741 | Destabilizing | 0.992 | D | 0.595 | neutral | None | None | None | None | N |
| T/H | 0.3068 | likely_benign | 0.348 | ambiguous | -0.936 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/I | 0.3508 | ambiguous | 0.3995 | ambiguous | 0.072 | Stabilizing | 0.998 | D | 0.775 | deleterious | N | 0.483831635 | None | None | N |
| T/K | 0.2844 | likely_benign | 0.3249 | benign | -0.508 | Destabilizing | 0.998 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/L | 0.1492 | likely_benign | 0.1679 | benign | 0.072 | Stabilizing | 0.996 | D | 0.577 | neutral | None | None | None | None | N |
| T/M | 0.1334 | likely_benign | 0.1447 | benign | 0.024 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/N | 0.1156 | likely_benign | 0.1291 | benign | -0.465 | Destabilizing | 0.997 | D | 0.605 | neutral | D | 0.525100917 | None | None | N |
| T/P | 0.0853 | likely_benign | 0.1079 | benign | -0.083 | Destabilizing | 0.998 | D | 0.777 | deleterious | N | 0.473663417 | None | None | N |
| T/Q | 0.2502 | likely_benign | 0.2918 | benign | -0.533 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| T/R | 0.2934 | likely_benign | 0.3442 | ambiguous | -0.349 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| T/S | 0.1 | likely_benign | 0.1174 | benign | -0.744 | Destabilizing | 0.775 | D | 0.223 | neutral | N | 0.475133456 | None | None | N |
| T/V | 0.2434 | likely_benign | 0.2767 | benign | -0.083 | Destabilizing | 0.996 | D | 0.499 | neutral | None | None | None | None | N |
| T/W | 0.7252 | likely_pathogenic | 0.778 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| T/Y | 0.4216 | ambiguous | 0.472 | ambiguous | -0.304 | Destabilizing | 1.0 | D | 0.795 | 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.