Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35497 | 106714;106715;106716 | chr2:178530002;178530001;178530000 | chr2:179394729;179394728;179394727 |
| N2AB | 33856 | 101791;101792;101793 | chr2:178530002;178530001;178530000 | chr2:179394729;179394728;179394727 |
| N2A | 32929 | 99010;99011;99012 | chr2:178530002;178530001;178530000 | chr2:179394729;179394728;179394727 |
| N2B | 26432 | 79519;79520;79521 | chr2:178530002;178530001;178530000 | chr2:179394729;179394728;179394727 |
| Novex-1 | 26557 | 79894;79895;79896 | chr2:178530002;178530001;178530000 | chr2:179394729;179394728;179394727 |
| Novex-2 | 26624 | 80095;80096;80097 | chr2:178530002;178530001;178530000 | chr2:179394729;179394728;179394727 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs369870182  |
-0.163 | 0.001 | N | 0.109 | 0.061 | None | gnomAD-2.1.1 | 7.43E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.59E-05 | 0 |
| S/A | rs369870182 |
-0.163 | 0.001 | N | 0.109 | 0.061 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| S/A | rs369870182 |
-0.163 | 0.001 | N | 0.109 | 0.061 | None | gnomAD-4.0.0 | 2.61938E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.48183E-05 | 0 | 1.60932E-05 |
| S/L | rs1688350064 |
None | 0.192 | D | 0.35 | 0.259 | 0.569526424754 | gnomAD-4.0.0 | 4.82355E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50645E-06 | 0 | 3.331E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0745 | likely_benign | 0.0726 | benign | -0.173 | Destabilizing | 0.001 | N | 0.109 | neutral | N | 0.501680631 | None | None | I |
| S/C | 0.2677 | likely_benign | 0.223 | benign | -0.41 | Destabilizing | 0.944 | D | 0.338 | neutral | None | None | None | None | I |
| S/D | 0.2654 | likely_benign | 0.2622 | benign | -0.141 | Destabilizing | 0.386 | N | 0.256 | neutral | None | None | None | None | I |
| S/E | 0.3644 | ambiguous | 0.3544 | ambiguous | -0.254 | Destabilizing | 0.386 | N | 0.262 | neutral | None | None | None | None | I |
| S/F | 0.2043 | likely_benign | 0.1861 | benign | -0.935 | Destabilizing | 0.817 | D | 0.374 | neutral | None | None | None | None | I |
| S/G | 0.1135 | likely_benign | 0.1121 | benign | -0.2 | Destabilizing | 0.001 | N | 0.111 | neutral | None | None | None | None | I |
| S/H | 0.3764 | ambiguous | 0.3454 | ambiguous | -0.527 | Destabilizing | 0.981 | D | 0.321 | neutral | None | None | None | None | I |
| S/I | 0.1562 | likely_benign | 0.1445 | benign | -0.23 | Destabilizing | 0.688 | D | 0.386 | neutral | None | None | None | None | I |
| S/K | 0.5793 | likely_pathogenic | 0.5493 | ambiguous | -0.45 | Destabilizing | 0.386 | N | 0.256 | neutral | None | None | None | None | I |
| S/L | 0.1019 | likely_benign | 0.0957 | benign | -0.23 | Destabilizing | 0.192 | N | 0.35 | neutral | D | 0.527328437 | None | None | I |
| S/M | 0.2313 | likely_benign | 0.2208 | benign | -0.175 | Destabilizing | 0.981 | D | 0.321 | neutral | None | None | None | None | I |
| S/N | 0.1328 | likely_benign | 0.1313 | benign | -0.209 | Destabilizing | 0.56 | D | 0.329 | neutral | None | None | None | None | I |
| S/P | 0.1867 | likely_benign | 0.1646 | benign | -0.189 | Destabilizing | 0.001 | N | 0.183 | neutral | N | 0.514764572 | None | None | I |
| S/Q | 0.4725 | ambiguous | 0.4504 | ambiguous | -0.444 | Destabilizing | 0.817 | D | 0.28 | neutral | None | None | None | None | I |
| S/R | 0.4966 | ambiguous | 0.4561 | ambiguous | -0.193 | Destabilizing | 0.688 | D | 0.323 | neutral | None | None | None | None | I |
| S/T | 0.0833 | likely_benign | 0.083 | benign | -0.318 | Destabilizing | 0.322 | N | 0.343 | neutral | N | 0.517554161 | None | None | I |
| S/V | 0.1822 | likely_benign | 0.1738 | benign | -0.189 | Destabilizing | 0.239 | N | 0.38 | neutral | None | None | None | None | I |
| S/W | 0.399 | ambiguous | 0.3659 | ambiguous | -1.029 | Destabilizing | 0.981 | D | 0.501 | neutral | None | None | None | None | I |
| S/Y | 0.2077 | likely_benign | 0.1839 | benign | -0.715 | Destabilizing | 0.932 | D | 0.373 | neutral | None | None | None | None | I |
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.