Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29014 | 87265;87266;87267 | chr2:178558419;178558418;178558417 | chr2:179423146;179423145;179423144 |
| N2AB | 27373 | 82342;82343;82344 | chr2:178558419;178558418;178558417 | chr2:179423146;179423145;179423144 |
| N2A | 26446 | 79561;79562;79563 | chr2:178558419;178558418;178558417 | chr2:179423146;179423145;179423144 |
| N2B | 19949 | 60070;60071;60072 | chr2:178558419;178558418;178558417 | chr2:179423146;179423145;179423144 |
| Novex-1 | 20074 | 60445;60446;60447 | chr2:178558419;178558418;178558417 | chr2:179423146;179423145;179423144 |
| Novex-2 | 20141 | 60646;60647;60648 | chr2:178558419;178558418;178558417 | chr2:179423146;179423145;179423144 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | rs772536290  |
None | 1.0 | N | 0.739 | 0.557 | 0.622646715091 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 2.88351E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/L | rs772536290 |
None | 1.0 | N | 0.739 | 0.557 | 0.622646715091 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | I | None | 0 | 0 | None | 2.88351E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/P | rs772536290 |
-1.605 | 1.0 | D | 0.797 | 0.64 | 0.565612946506 | gnomAD-4.0.0 | 6.84252E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52525E-05 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | None | -1.095 | 1.0 | N | 0.806 | 0.486 | 0.328752806141 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 1.66003E-04 |
| R/Q | None | -1.095 | 1.0 | N | 0.806 | 0.486 | 0.328752806141 | gnomAD-4.0.0 | 1.71063E-05 | None | None | None | None | I | None | 2.98757E-05 | 4.47207E-05 | None | 0 | 0 | None | 0 | 0 | 1.88886E-05 | 1.1595E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9516 | likely_pathogenic | 0.9566 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
| R/C | 0.4591 | ambiguous | 0.4982 | ambiguous | -1.832 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| R/D | 0.9956 | likely_pathogenic | 0.9959 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| R/E | 0.9207 | likely_pathogenic | 0.922 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| R/F | 0.9849 | likely_pathogenic | 0.9889 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| R/G | 0.9436 | likely_pathogenic | 0.9489 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.54855288 | None | None | I |
| R/H | 0.3519 | ambiguous | 0.3837 | ambiguous | -2.009 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| R/I | 0.9387 | likely_pathogenic | 0.9517 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| R/K | 0.3661 | ambiguous | 0.4143 | ambiguous | -1.193 | Destabilizing | 0.998 | D | 0.665 | neutral | None | None | None | None | I |
| R/L | 0.8848 | likely_pathogenic | 0.9089 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.50107697 | None | None | I |
| R/M | 0.9239 | likely_pathogenic | 0.9377 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| R/N | 0.9817 | likely_pathogenic | 0.9836 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| R/P | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.549059859 | None | None | I |
| R/Q | 0.2673 | likely_benign | 0.2866 | benign | -1.234 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.48151423 | None | None | I |
| R/S | 0.9578 | likely_pathogenic | 0.962 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| R/T | 0.9319 | likely_pathogenic | 0.9393 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| R/V | 0.9314 | likely_pathogenic | 0.9425 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| R/W | 0.7905 | likely_pathogenic | 0.8326 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| R/Y | 0.9387 | likely_pathogenic | 0.9512 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.824 | deleterious | 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.